(used for variant description)
(last modified March 1, 2021)
This file was created to facilitate the description of sequence variants on transcript NM_198859.3 in the PRICKLE2 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_031930.1, covering PRICKLE2 transcript NM_198859.3.
(upstream sequence)
. . . . g.5046
gacttctcaggcaccaccagcagcgccaccgagagttattattatt c.-541
. . . . . . g.5106
ttttgaccaagcagcacatttcctggttcagtggcttgagctctgtgagcagctgactag c.-481
. . . . . . g.5166
tcaccccgggtctggctcaggatcagctggtgacgctgggctggagtctatgacttcttc c.-421
. . . . . . g.5226
cttcagattgtcatgaagaaggggagttaagaggaaactgggggtcctccggaaggcgat c.-361
. . . . . . g.5286
ctgagcactcaggctgatctagaggaagagtagaagtcatactttttttctcttgcttgg c.-301
. . . . . . g.5346
tgaattccccagcagagtctggatccagcagtgctgttttccctgagggaatgtggagca c.-241
. . . . . . g.5406
gctcggcttgagtctgttgccagcttcaggaagggttcagactgaaaagggggtttgagg c.-181
. . . . . . g.5466
agaagatgctttggctgcctgaggtcctgcttgcgttcttagaagtcagatccagggaga c.-121
. . . . . . g.5526
aagtgaactgggacaattgacaagctccaagggtctggcagaagcttcctccgagactgg c.-61
. . | 02 . . . g.31528
gcatttcatcctccctggag | gaagatctgcctgcactgcaagtgtccccaggaggagcac c.-1
. . . . . . g.31588
ATGGTGACAGTGATGCCGCTGGAGATGGAGAAGACCATCAGCAAACTCATGTTTGACTTT c.60
M V T V M P L E M E K T I S K L M F D F p.20
. . . . . . g.31648
CAGAGGAACTCGACCTCAGATGATGACTCAGGCTGTGCTTTGGAAGAGTATGCCTGGGTC c.120
Q R N S T S D D D S G C A L E E Y A W V p.40
. . | 03 . . . . g.67362
CCGCCGGGTCTGAAGCCTGAACAG | GTACACCAGTACTATAGCTGTCTCCCAGAAGAGAAA c.180
P P G L K P E Q | V H Q Y Y S C L P E E K p.60
. . . . . . g.67422
GTCCCTTATGTCAACAGTCCTGGAGAGAAACTGCGAATCAAGCAGCTACTACACCAGCTG c.240
V P Y V N S P G E K L R I K Q L L H Q L p.80
. | 04 . . . . g.70420
CCGCCACATGACAATGAG | GTTCGATATTGCAACTCCCTGGATGAGGAAGAGAAGAGGGAG c.300
P P H D N E | V R Y C N S L D E E E K R E p.100
. . . . . . g.70480
CTGAAGCTTTTCAGCAGCCAGAGGAAACGCGAAAACTTGGGCCGCGGGAATGTCAGGCCT c.360
L K L F S S Q R K R E N L G R G N V R P p.120
. . . | 05 . . . g.73114
TTCCCAGTCACCATGACAGGAGCTATTTGTGAACAG | TGCGGAGGCCAGATCAATGGTGGA c.420
F P V T M T G A I C E Q | C G G Q I N G G p.140
. . . . . . g.73174
GACATCGCTGTGTTTGCGTCACGCGCTGGCCACGGCGTTTGCTGGCACCCGCCGTGCTTC c.480
D I A V F A S R A G H G V C W H P P C F p.160
. . . . . . g.73234
GTATGCACTGTCTGCAATGAGCTCCTGGTGGATCTGATCTACTTTTACCAAGATGGGAAG c.540
V C T V C N E L L V D L I Y F Y Q D G K p.180
. . . . . . g.73294
ATATACTGTGGCAGGCACCATGCTGAGTGCCTGAAGCCGCGCTGTGCTGCCTGCGATGAG c.600
I Y C G R H H A E C L K P R C A A C D E p.200
| 06 . . . . . . g.77147
| ATCATCTTTGCAGATGAATGCACAGAAGCTGAGGGGCGACACTGGCACATGAAACACTTT c.660
| I I F A D E C T E A E G R H W H M K H F p.220
. . . . . . g.77207
TGCTGCTTCGAGTGTGAGACAGTGCTGGGCGGCCAGCGCTACATCATGAAGGAGGGAAGA c.720
C C F E C E T V L G G Q R Y I M K E G R p.240
. . . . . . g.77267
CCCTACTGTTGCCACTGCTTCGAGTCCTTGTATGCAGAATATTGTGACACCTGTGCCCAA c.780
P Y C C H C F E S L Y A E Y C D T C A Q p.260
| 07. . . . . . g.82806
CATATAG | GTATCGACCAAGGTCAAATGACCTATGATGGCCAACACTGGCATGCCACTGAG c.840
H I G | I D Q G Q M T Y D G Q H W H A T E p.280
. . . . . . g.82866
ACCTGTTTCTGCTGTGCTCACTGCAAGAAATCCCTCCTGGGGCGGCCATTCCTCCCGAAG c.900
T C F C C A H C K K S L L G R P F L P K p.300
. . . . . . g.82926
CAGGGCCAGATATTCTGCTCACGGGCCTGCAGTGCTGGGGAAGACCCCAATGGTTCTGAC c.960
Q G Q I F C S R A C S A G E D P N G S D p.320
. . . . . . g.82986
TCCTCTGATTCCGCCTTCCAGAACGCCAGGGCCAAGGAGTCCCGGCGCAGTGCCAAAATT c.1020
S S D S A F Q N A R A K E S R R S A K I p.340
. . . . . . g.83046
GGCAAGAACAAGGGCAAGACGGAGGAGCCCATGCTGAACCAGCACAGCCAGCTGCAAGTG c.1080
G K N K G K T E E P M L N Q H S Q L Q V p.360
. . . . . . g.83106
AGTTCTAACCGGCTGTCAGCCGACGTAGACCCCCTGTCACTGCAGATGGACATGCTCAGC c.1140
S S N R L S A D V D P L S L Q M D M L S p.380
. . . . . . g.83166
CTGTCCAGCCAGACACCCAGCCTCAACCGGGACCCCATCTGGAGGAGCCGGGAAGAGCCC c.1200
L S S Q T P S L N R D P I W R S R E E P p.400
. . . . . . g.83226
TACCATTATGGGAACAAGATGGAGCAGAACCAGACCCAGAGCCCTCTGCAGCTCCTCAGC c.1260
Y H Y G N K M E Q N Q T Q S P L Q L L S p.420
. . . . . . g.83286
CAGTGCAACATCAGAACTTCCTACAGTCCAGGAGGGCAAGGGGCTGGGGCCCAGCCCGAA c.1320
Q C N I R T S Y S P G G Q G A G A Q P E p.440
. . . . . . g.83346
ATGTGGGGCAAGCACTTCAGCAACCCCAAAAGGAGCTCGTCACTGGCCATGACAGGACAT c.1380
M W G K H F S N P K R S S S L A M T G H p.460
. . . . . . g.83406
GCTGGCAGCTTCATCAAGGAATGCCGAGAAGACTATTACCCGGGGAGGCTGAGATCTCAG c.1440
A G S F I K E C R E D Y Y P G R L R S Q p.480
. . . . . . g.83466
GAGAGCTACAGTGATATGTCTAGTCAGAGTTTCAGTGAGACCCGAGGCAGCATCCAAGTC c.1500
E S Y S D M S S Q S F S E T R G S I Q V p.500
. . . . . . g.83526
CCCAAATATGAGGAGGAAGAGGAAGAGGAAGGGGGCTTGTCCACTCAGCAGTGTCGGACC c.1560
P K Y E E E E E E E G G L S T Q Q C R T p.520
. . . . . . g.83586
CGTCATCCCATCAGTTCCCTGAAATACACAGAGGACATGACGCCCACAGAGCAGACCCCT c.1620
R H P I S S L K Y T E D M T P T E Q T P p.540
. . . . | 08 . . g.130550
CGGGGCTCCATGGAATCCCTGGCCCTGTCTAATGCAACAG | GCCTCTCTGCTGATGGTGGT c.1680
R G S M E S L A L S N A T G | L S A D G G p.560
. . . . . . g.130610
GCCAAGCGCCAGGAGCACCTATCCCGATTTTCCATGCCTGACCTCAGCAAAGACTCTGGA c.1740
A K R Q E H L S R F S M P D L S K D S G p.580
. . . . . . g.130670
ATGAATGTGTCTGAGAAGCTGAGCAACATGGGCACTCTTAACTCGTCCATGCAGTTCCGG c.1800
M N V S E K L S N M G T L N S S M Q F R p.600
. . . . . . g.130730
AGCGCAGAGTCAGTTCGCAGCCTGCTCTCTGCCCAGCAGTACCAGGAGATGGAGGGAAAC c.1860
S A E S V R S L L S A Q Q Y Q E M E G N p.620
. . . . . . g.130790
CTCCACCAGCTCAGCAACCCCATTGGCTACAGAGACCTGCAGTCCCACGGAAGGATGCAT c.1920
L H Q L S N P I G Y R D L Q S H G R M H p.640
. . . . . . g.130850
CAGAGCTTTGATTTTGATGGAGGGATGGCGGGCAGCAAGCTGCCAGGGCAGGAGGGCGTG c.1980
Q S F D F D G G M A G S K L P G Q E G V p.660
. . . . . . g.130910
AGGATCCAGCCCATGAGTGAACGCACCCGGAGAAGAGCTACTTCACGCGACGACAACCGC c.2040
R I Q P M S E R T R R R A T S R D D N R p.680
. . . . . . g.130970
CGTTTCCGACCTCACAGGTCCAGGCGTTCCCGACGCTCTCGCTCCGACAACGCCCTCCAC c.2100
R F R P H R S R R S R R S R S D N A L H p.700
. . . . . . g.131030
CTGGCCAGCGAACGCGAGGCCATCTCCCGGTTAAAAGATAGGCCCCCTCTGAGAGCCAGG c.2160
L A S E R E A I S R L K D R P P L R A R p.720
. . . . . . g.131090
GAGGACTATGACCAATTTATGCGCCAGCGGAGCTTCCAGGAGAGCATGGGGCATGGGTCC c.2220
E D Y D Q F M R Q R S F Q E S M G H G S p.740
. . . . . . g.131150
CGGAGGGACCTGTACGGCCAGTGCCCTAGGACTGTGTCGGACCTGGCTTTGCAGAATGCC c.2280
R R D L Y G Q C P R T V S D L A L Q N A p.760
. . . . . . g.131210
TTTGGGGACCGCTGGGGACCCTACTTCGCCGAGTATGATTGGTGTTCCACCTGCTCCTCC c.2340
F G D R W G P Y F A E Y D W C S T C S S p.780
. . . . . . g.131270
TCTTCAGAGTCTGACAACGAGGGCTATTTCCTAGGAGAACCCATCCCCCAGCCAGCGCGC c.2400
S S E S D N E G Y F L G E P I P Q P A R p.800
. . . . . . g.131330
CTGCGATACGTCACAAGCGATGAGCTGCTGCACAAATACAGCTCCTACGGCCTCCCCAAA c.2460
L R Y V T S D E L L H K Y S S Y G L P K p.820
. . . . . . g.131390
TCTTCCACATTAGGTGGCAGAGGACAGTTGCACAGCAGGAAAAGACAGAAGAGCAAAAAC c.2520
S S T L G G R G Q L H S R K R Q K S K N p.840
. g.131405
TGTATCATTTCTTAA c.2535
C I I S X p.844
. . . . . . g.131465
tatgattgggatcagggaatgggagaagatgggagctaagaatgtaaagtcagaaacttg c.*60
. . . . . . g.131525
cactgttttaaatgttaaagcgcttttgggggtggcttatgggggagaaaagggaaaatg c.*120
. . . . . . g.131585
ctgtcagtagatggaggcaaggttacaggttgactcaataggtagtcacagttcttggca c.*180
. . . . . . g.131645
tgttgaatattatttgcacatttcactttggaaacacagtagactctatcgaggccaggc c.*240
. . . . . . g.131705
ttggtcacttccttcccatcagttctgtgttgagttgccatctctcaagatggtaaattg c.*300
. . . . . . g.131765
tttcctgctcgcttttatcctctctggttctcttacttttaggacccttttttcagtaag c.*360
. . . . . . g.131825
taatttgtttattagccaggacccaagactaagttatttacatgtccattgtaaatgcaa c.*420
. . . . . . g.131885
tgtaaatgagagttctgataaaatatttttgtattttgtaatatcaaaggaatttctata c.*480
. . . . . . g.131945
tcgtaggactcagtggggacttgcatgcacatccaccattgtctctgagtagtattgaaa c.*540
. . . . . . g.132005
tgtggcccggtaccaccttttttttttttttttttttttctatacaaatttgttacatgt c.*600
. . . . . . g.132065
cagtgagacctttttcaaaggaacatattcaatttggctttttgtggctgaaaaaacata c.*660
. . . . . . g.132125
actgttagacccaaagcattttatgctccgttccatcttaaggagccatccttaagtctg c.*720
. . . . . . g.132185
ctcccaccctcagtagaatttattttctacaaagtggtagtaatttttttttaaattgca c.*780
. . . . . . g.132245
aatgtaatttttgccaattagagaaaccaaccggtgtcagtaaaattctgtgagaaatgc c.*840
. . . . . . g.132305
catccctgctgggaatgttgaagttacttaatgttgatctatcccttggggaaagtaaaa c.*900
. . . . . . g.132365
gtgactgtgagtggtgccattgtgtgatgtcagcatgacgttgttttgaatgtggcatta c.*960
. . . . . . g.132425
tgttctggtgctcatgtttcctggattgtattatctgctttcctttaccaaggcagacag c.*1020
. . . . . . g.132485
aactgctgccttagcctgacaaccggttgtcctcaaagcaaatgaacttaagcatttggg c.*1080
. . . . . . g.132545
attgagggacagaaggattctgagggggctctgcgagggacggtgtgtgacatgtcatgc c.*1140
. . . . . . g.132605
ctggagaaggaacaaggctatttgaaaacagaaggcaggtcaagggtagaagttaaagga c.*1200
. . . . . . g.132665
gaatctgaaggcaggtcagggaaaagaagaactggaaatgaaacagaggacaggtgacaa c.*1260
. . . . . . g.132725
ccacctcgaagagctcccagagattgtagaaagagtccagtgtaaccagcttagtaacca c.*1320
. . . . . . g.132785
gagtatctggattacccaggaaggttgagctgctgagatttcagtggtgcaatgtcttta c.*1380
. . . . . . g.132845
aaaaaacaggctttgttgggagggtatttccattttgaactttgaggactgttggtcaga c.*1440
. . . . . . g.132905
aaatgggctcaaaagtgagtttgcttaatgaagacatttaacggttgtgctgtttatagt c.*1500
. . . . . . g.132965
aaaataaaactccctaccttgcttcagttaaaaatgaagcacttggtttcttccatcctc c.*1560
. . . . . . g.133025
ctcctccccttaatggattgtggcagttgaaataatccatcggatgacccacctgtagtg c.*1620
. . . . . . g.133085
agatgtactgtcgatgtagtgcccggtgtatctcagtggccatctgccatggtgaggtga c.*1680
. . . . . . g.133145
gcgtgatctcttttcagtatagtagttaacattttctagtattttttatggagagaatgt c.*1740
. . . . . . g.133205
caaaagtggcatttcagaccccgtcccagatgggtctgaggaaaggaaggctgtaaagga c.*1800
. . . . . . g.133265
catggtaatggcactccattcgggatgtattaaaataatttgcttttcaggtattaatat c.*1860
. . . . . . g.133325
gacatttgtcattgtcactgatttttttaaaaaagcaatgcacatgttggttgtggctgt c.*1920
. . . . . . g.133385
tttccgcatgctatcttcatatctaaatgcttcattaattatccgagcctccggagaatt c.*1980
. . . . . . g.133445
aactctattacgtttgtatagtaagtttgtaaactgcttggcaaactgattaagaaataa c.*2040
. . . . . . g.133505
tttgcaataccgtgctactaaagtggcaggtttctggtagaaattgtgcgagtccaattt c.*2100
. . . . . . g.133565
ggagttttaagttccttgattgatgaaactaaaaaggcaattttggaaaaagagaggggg c.*2160
. . . . . . g.133625
aaaagtagatcacttatcttagcaaacggttgaaaatatgtctgtcctctgtggccccaa c.*2220
. . . . . . g.133685
atccagtgaaagaaattctcccagtaaaagttgcttcctaactctgtttttctcagaata c.*2280
. . . . . . g.133745
cctcttacctttctcaaagaaagcttcaaccaccatcatcagaaagaaggtggcctaaaa c.*2340
. . . . . . g.133805
actgacacatggccagtgcccggaggggtctggaggcataagtctagatgcccagagagc c.*2400
. . . . . . g.133865
atccaggcactgaactgctcagagcttgagatgaaatgacatacaagcttcagggtaaaa c.*2460
. . . . . . g.133925
ctgtctactagcaagattacctccctcaattctaccattgcagatttcttctgaccccaa c.*2520
. . . . . . g.133985
atgcaaccttacagagaatgctgaatgaggaaggccaattccttacaatgatggcagaac c.*2580
. . . . . . g.134045
ccccaagcgaatgccctattgaggagaaggacatcactgtatttggaattctgcctgcta c.*2640
. . . . . . g.134105
gtgatagctcacacatcacatcccagaatcccactcccaatgcattatttcctgaggcaa c.*2700
. . . . . . g.134165
gaacttaaggtcctcacctaattcctccatcacaaccattaactcttattggacaagctc c.*2760
. . . . . . g.134225
ctcctgtgagtagggcctgtactcacttcctcttagatcataattccatcttcaagagac c.*2820
. . . . . . g.134285
tgatttccagaatagtaatctttttccagcgttctctcttctccaatgccctggttgtta c.*2880
. . . . . . g.134345
tttttcccacctctcctaatattgatcttcttgtcttttggttagaactgcaacttcgga c.*2940
. . . . . . g.134405
gttgagttcatttcctattgctgctcaattcagtagcaacatagctggcttgttcccaga c.*3000
. . . . . . g.134465
cccaggaagtataagtcattgacagtttcctgagtggctctgccaatccataccaccctt c.*3060
. . . . . . g.134525
ggtactgtgaaaaggcttcttggcagccaggtggcattgaggatggtattcagggcgctt c.*3120
. . . . . . g.134585
tccttctgtcatatagttgtgggatctctaccaagtgtgaaggtgaatgaggtaagggag c.*3180
. . . . . . g.134645
atcagaaccatgcttcctggtttttcatacatccaaggaagaagtcctggtgtgggttgt c.*3240
. . . . . . g.134705
ttgacaccttctttccactttcaccttttattttttattccttcctttctacccccaacc c.*3300
. . . . . . g.134765
agtcgagcaaatgagcaattttgtgtttctaatacaggatctggaagtagtgctttctaa c.*3360
. . . . . . g.134825
tcctcatttcctgtaggatgttcctgcactataacaagattatgttttcttccttctgca c.*3420
. . . . . . g.134885
gcagctttctgcttcttgggtactactagctattgttcaattcaggtgaggcctgtgatg c.*3480
. . . . . . g.134945
acatatatgtagcatgtgctctgcgctccctgcaagctgagcagatacaaccaatgcatc c.*3540
. . . . . . g.135005
actgtatactcttgctgagaatgtggatgcagcctcacagatctttgcaacactccaacc c.*3600
. . . . . . g.135065
agccaggaccagttgatcagaactgatcttattggtctgataaccaatcttatttgtgaa c.*3660
. . . . . . g.135125
ctgattcatatctgtctttccactcttggttctcttgccgtagaacaaaaacagtttagg c.*3720
. . . . . . g.135185
aagcataattacgaacatttaggaaccaatatgtataagtaattcggagactccaattca c.*3780
. . . . . . g.135245
cctgcccctcccccatcccaggttgtggaggctcgaggaagctgacttcttaggctaaag c.*3840
. . . . . . g.135305
gacaaaaaaatctctttacctccttggccattttcatgttctctgccaattactataggc c.*3900
. . . . . . g.135365
agtcttcattttgcagaggtgaggtaagacttcatcttattcttcatgtaatcccacctt c.*3960
. . . . . . g.135425
ctaacaaaaaataaataaatatttaaattccaaggagaagtgttctttgtgtatttctag c.*4020
. . . . . . g.135485
cagaaaacagatgcttaagcctaagaaggaagatccgtccatgacaaaggaaagtggaaa c.*4080
. . . . . . g.135545
actgaaccagttatctgaatacttcatgccaggacagttgctattagcaactgttttgca c.*4140
. . . . . . g.135605
ccttcagggctttaaaatgggctctgcagacagcatttgcatatgcaagactcagtagcc c.*4200
. . . . . . g.135665
aagcctccactgccaattgttgaaggcagtttcagatcgccaccttttgaggtacatttc c.*4260
. . . . . . g.135725
tttaagcacaagagaagtagaaatggcctttgccttgtctccagtggtttgtccctctgg c.*4320
. . . . . . g.135785
tgcctcagcagataccagagcttattcttatgaccatttggaagtagtcctcaaagtaaa c.*4380
. . . . . . g.135845
gatcaagaaaaaattggattctttttccattttctcataatagtagcctagtcaacacaa c.*4440
. . . . . . g.135905
gactcccataaaatatgactcactattgggagccatactattttataagcttacttcctg c.*4500
. . . . . . g.135965
ctgacaaaactagctttcctcaaggaaatataaaggaggggaaagtcacatagtgttagg c.*4560
. . . . . . g.136025
aaaacattcctgtgttttgaatacgatgaatccataggatagagaaaaatctgcttgttc c.*4620
. . . . . . g.136085
tattctgagagttctctgagatatcccttcactctgcttggcatttggccattgatattc c.*4680
. . . . . . g.136145
aacaggtcactgaccaagcttttctaaatttttcagagagagttacttaccagtaaggtc c.*4740
. . . . . . g.136205
tgttcttaaacctacctagttgattttcatatctttccataaagtgtcatgattctgtca c.*4800
. . . . . . g.136265
tagaccctgacttaacattgtaaggactatgagtcctccattttttaattaatttttttt c.*4860
. . . . . . g.136325
tagcaaattaggacttcggcaggttttcctctcctaaactcattctttcctccacaggat c.*4920
. . . . . . g.136385
tgctttgtccatctcctgctttcatttcaagtgcataaacaaaacctcaaagggcctggg c.*4980
. . . . . . g.136445
aaggtgaggcaggccagagtctgtgttctgtgttgagtgtcaagctatttgttaagaagg c.*5040
. . . . . . g.136505
tctgcaacaggcctttggtgtgggctctgccagagactgttctgaacactttgcttgaga c.*5100
. . . . . . g.136565
tccgtgccctgtaaaatggatatgatgttttactgatgtctgtaatacatttgtaaactt c.*5160
. . . . g.136606
ccaataaaatttgaataaaagaaatgttgccattcttctca c.*5201
(downstream sequence)
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