(used for variant description)
(last modified June 24, 2020)
This file was created to facilitate the description of sequence variants on transcript NM_001127460.2 in the PAN2 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000012.11, covering PAN2 transcript NM_001127460.2.
(upstream sequence)
. g.5321
agagaattctgggtaac c.-361
. . . . . . g.5381
tagccgtttccgtcaccttcccctgcccccgccccaattgtgggtaactggccattattg c.-301
. . . . . . g.5441
ttttcctctagagaatcctgggtagctattggagaggattctaggaaactgacttctcgt c.-241
. . . . . . g.5501
tctccccaccgtccaatccacccgttttcacccccaattctgggagaaagcaccttaaat c.-181
. . . . . . g.5561
ccctctacctaactccaacccccgcaattctcgctcccttcacctgatgattcagggctg c.-121
. | 02 . . . . . g.5899
aacaag | gccaggatgtccattctaggcccatcggtgctgtcttgctgaaggttgggtcag c.-61
. . . . . . g.5959
gcatctaaagggactgtggtaagggagggtgtgacacaggtgtaagctgccatcgtcatc c.-1
. . . . . . g.6019
ATGAACTTTGAGGGTCTGGACCCTGGACTGGCAGAATATGCCCCAGCCATGCATTCTGCC c.60
M N F E G L D P G L A E Y A P A M H S A p.20
. . . . . . g.6079
CTGGACCCTGTCTTGGATGCCCACCTGAACCCAAGTCTGCTACAGAATGTGGAGCTGGAC c.120
L D P V L D A H L N P S L L Q N V E L D p.40
. . . . . . g.6139
CCAGAGGGAGTGGCCTTGGAGGCTCTTCCCGTCCAGGAATCAGTGCACATAATGGAAGGT c.180
P E G V A L E A L P V Q E S V H I M E G p.60
. . . . . . g.6199
GTCTACTCTGAATTGCACAGCGTGGTGGCTGAAGTGGGTGTACCTGTTTCCGTCTCCCAC c.240
V Y S E L H S V V A E V G V P V S V S H p.80
. . . . | 03 . . g.10430
TTTGACTTGCACGAGGAGATGCTGTGGGTGGGGAGCCACGGG | GGCCATGCCACTTCATTT c.300
F D L H E E M L W V G S H G | G H A T S F p.100
. . . . . . g.10490
TTTGGCCCAGCCTTGGAGCGCTACTCATCCTTTCAAGTCAATGGCAGTGATGATATTCGG c.360
F G P A L E R Y S S F Q V N G S D D I R p.120
. . . . . . g.10550
CAGATCCAGAGCCTGGAGAATGGTATCCTTTTTCTCACCAAGAACAACCTCAAGTATATG c.420
Q I Q S L E N G I L F L T K N N L K Y M p.140
. . . | 04 . . . g.10723
GCCCGTGGGGGCCTCATTATATTTGATTACCT | GCTGGATGAGAATGAGGATATGCACAGT c.480
A R G G L I I F D Y L | L D E N E D M H S p.160
. . . . . . g.10783
CTCCTACTGACTGACAGCAGCACTCTACTCGTTGGTGGGCTGCAGAATCACATAATAGAG c.540
L L L T D S S T L L V G G L Q N H I I E p.180
. . . | 05 . . . g.11008
ATTGATCTTAACACTGTCCAGGAGACTCAGAAG | TATGCAGTAGAGACGCCTGGAGTCACC c.600
I D L N T V Q E T Q K | Y A V E T P G V T p.200
. . . . . | 06 . g.11431
ATCATGAGACAGACAAATCGCTTCTTCTTCTGCGGCCACACGTCTGGCAAG | GTTTCCCTG c.660
I M R Q T N R F F F C G H T S G K | V S L p.220
. . . . . . g.11491
AGAGACCTCCGTACTTTTAAGGTGGAACATGAGTTTGATGCCTTCTCAGGAAGTCTGTCA c.720
R D L R T F K V E H E F D A F S G S L S p.240
. . . . . . g.11551
GACTTTGATGTGCATGGCAACCTGCTAGCTGCCTGTGGCTTCTCCAGCCGCCTCACTGGC c.780
D F D V H G N L L A A C G F S S R L T G p.260
. . . . . . g.11611
CTGGCCTGCGACCGTTTCCTCAAGGTGTATGATTTGCGCATGATGCGTGCCATCACACCA c.840
L A C D R F L K V Y D L R M M R A I T P p.280
. . . . . . g.11671
CTTCAAGTACATGTGGATCCTGCCTTCTTGCGCTTCATTCCTACATATACTTCTCGTCTT c.900
L Q V H V D P A F L R F I P T Y T S R L p.300
. | 07 . . . . g.12135
GCTATCATCTCTCAGTCAG | GGCAGTGCCAATTCTGTGAACCCACAGGCCTGGCCAACCCA c.960
A I I S Q S G | Q C Q F C E P T G L A N P p.320
. . . . . . g.12195
GCCGATATCTTTCATGTGAATCCTGTGGGGCCTCTGCTAATGACATTTGATGTGTCAGCC c.1020
A D I F H V N P V G P L L M T F D V S A p.340
. . . . . . g.12255
AGCAAGCAGGCTCTGGCCTTTGGGGATTCTGAGGGCTGTGTGCACCTCTGGACTGATTCC c.1080
S K Q A L A F G D S E G C V H L W T D S p.360
. . . . . . g.12315
CCGGAGCCTTCCTTCAACCCCTACTCCCGTGAGACTGAGTTTGCTTTGCCGTGTCTCGTG c.1140
P E P S F N P Y S R E T E F A L P C L V p.380
. . . . . . g.12375
GACTCACTGCCTCCTCTGGACTGGAGCCAGGACCTGCTGCCTCTTTCCCTCATCCCTGTC c.1200
D S L P P L D W S Q D L L P L S L I P V p.400
. . . . . . g.12435
CCACTCACCACTGACACACTTCTCTCTGATTGGCCTGCTGCCAACTCTGCTCCAGCTCCC c.1260
P L T T D T L L S D W P A A N S A P A P p.420
| 08 . . . . . . g.12702
AG | GCGAGCACCACCCGTGGATGCAGAGATTCTGCGCACCATGAAGAAGGTGGGCTTCATT c.1320
R | R A P P V D A E I L R T M K K V G F I p.440
. . . | 09 . . g.13620
GGCTATGCGCCCAATCCCCGCACCAGGCTGCGCAATCAG | ATACCCTACAGACTCAAGGAG c.1380
G Y A P N P R T R L R N Q | I P Y R L K E p.460
. . . . . . g.13680
TCAGACAGTGAATTTGACAGCTTCAGCCAGGTCACTGAGTCACCAGTAGGACGAGAAGAG c.1440
S D S E F D S F S Q V T E S P V G R E E p.480
. . . | 10 . . g.13946
GAACCACATCTCCACATGGTTTCTAAGAAATACCGCAAG | GTGACCATCAAATATTCCAAG c.1500
E P H L H M V S K K Y R K | V T I K Y S K p.500
. . . . . . g.14006
CTAGGGCTGGAGGACTTTGACTTCAAACACTACAATAAGACCTTGTTTGCTGGATTAGAG c.1560
L G L E D F D F K H Y N K T L F A G L E p.520
. . . | 11 . . g.14365
CCCCACATTCCCAACGCCTACTGTAACTGCATGATCCAG | GTGCTCTATTTCCTGGAGCCT c.1620
P H I P N A Y C N C M I Q | V L Y F L E P p.540
. . . . . . g.14425
GTACGCTGTCTAATTCAAAACCACCTTTGCCAGAAGGAGTTCTGTCTGGCATGTGAGCTG c.1680
V R C L I Q N H L C Q K E F C L A C E L p.560
. . . . | 12 . g.14572
GGCTTCCTGTTTCACATGTTGGACCTCTCTCGTGGTGACCCTTGCCAG | GGCAATAATTTT c.1740
G F L F H M L D L S R G D P C Q | G N N F p.580
. . . . . . g.14632
CTTCGGGCATTCCGTACTATTCCTGAGGCCTCAGCCCTCGGTCTAATCCTGGCTGACTCA c.1800
L R A F R T I P E A S A L G L I L A D S p.600
. . . . . . g.14692
GATGAGGCCTCAGGCAAGGGCAATCTGGCCAGGCTCATTCAGAGGTGGAATCGCTTCATT c.1860
D E A S G K G N L A R L I Q R W N R F I p.620
. . . . . . g.14752
CTCACTCAACTGCATCAAGATATGCAGGAGCTGGAAATACCACAGGCTTATCGAGGTGCT c.1920
L T Q L H Q D M Q E L E I P Q A Y R G A p.640
| 13 . . . . . g.14920
GGAGGCAG | CAGCTTTTGCTCATCGGGGGACTCTGTTATTGGGCAGCTCTTCAGCTGTGAG c.1980
G G S | S F C S S G D S V I G Q L F S C E p.660
. . . . . . g.14980
ATGGAGAACTGCAGCCTCTGCCGCTGTGGCAGTGAGACCGTGCGAGCCTCATCCACTCTG c.2040
M E N C S L C R C G S E T V R A S S T L p.680
. . . | 14. . . g.15163
CTTTTCACACTCTCCTACCCTGATGGTAGCAAAAGTG | ATAAAACTGGGAAGAACTATGAC c.2100
L F T L S Y P D G S K S D | K T G K N Y D p.700
. . . . . . g.15223
TTTGCTCAGGTGCTGAAGCGAAGCATCTGCCTGGACCAGAATACACAGGCCTGGTGTGAC c.2160
F A Q V L K R S I C L D Q N T Q A W C D p.720
. . | 15 . . . . g.15491
ACCTGTGAAAAGTACCAGCCCACG | ATTCAGACCCGCAACATCCGCCATCTGCCAGATATT c.2220
T C E K Y Q P T | I Q T R N I R H L P D I p.740
. . . . . . g.15551
CTTGTCATCAATTGTGAGGTGAACAGCTCAAAAGAGGCTGATTTCTGGAGAATGCAGGCT c.2280
L V I N C E V N S S K E A D F W R M Q A p.760
| 16 . . . . . . g.15726
GAG | GTTGCCTTCAAGATGGCAGTAAAGAAACACGGTGGGGAAATCTCCAAGAACAAGGAA c.2340
E | V A F K M A V K K H G G E I S K N K E p.780
. | 17. . . . . g.15887
TTTGCTTTGGCTGATTG | GAAGGAACTAGGGAGTCCAGAGGGTGTGCTGGTGTGTCCCTCC c.2400
F A L A D W | K E L G S P E G V L V C P S p.800
. . . . . . g.15947
ATTGAGGAGTTGAAGAACGTCTGGCTTCCTTTCTCCATTCGCATGAAGATGACCAAAAAC c.2460
I E E L K N V W L P F S I R M K M T K N p.820
. . . . | 18 . . g.16310
AAAGGGCTGGATGTTTGCAATTGGACTGATGGGGATGAGATGCAG | TGGGGCCCAGCCAGG c.2520
K G L D V C N W T D G D E M Q | W G P A R p.840
. . . . . . g.16370
GCAGAGGAGGAGCATGGTGTCTATGTGTATGACCTGATGGCTACTGTGGTACACATCCTG c.2580
A E E E H G V Y V Y D L M A T V V H I L p.860
. . . . . . g.16430
GACTCACGCACAGGGGGCAGCCTGGTGGCTCACATCAAAGTTGGAGAGACCTACCACCAG c.2640
D S R T G G S L V A H I K V G E T Y H Q p.880
| 19 . . . . . g.16622
CGCAAGGAG | GGCGTTACTCACCAGCAGTGGTATCTGTTCAATGACTTTCTTATTGAACCT c.2700
R K E | G V T H Q Q W Y L F N D F L I E P p.900
| 20 . . . . . g.16936
ATTGATAAG | CATGAAGCTGTGCAGTTTGACATGAATTGGAAAGTACCTGCAATCCTTTAT c.2760
I D K | H E A V Q F D M N W K V P A I L Y p.920
. . . . | 21 . . g.19052
TATGTCAAACGGAATCTCAATTCCAGATACAACCTGAACA | TCAAGAACCCTATTGAGGCA c.2820
Y V K R N L N S R Y N L N I | K N P I E A p.940
. . . . . . g.19112
AGTGTCTTGCTGGCTGAAGCCTCGCTGGCACGGAAGCAGCGGAAAACACATACTACCTTT c.2880
S V L L A E A S L A R K Q R K T H T T F p.960
. . . . . . g.19172
ATTCCACTGATGCTGAATGAGATGCCACAGATTGGGGACCTGGTGGGTCTGGATGCTGAG c.2940
I P L M L N E M P Q I G D L V G L D A E p.980
. | 22 . . . . g.19331
TTTGTCACCCTTAATGAG | GAGGAAGCAGAGTTACGCAGTGATGGTACCAAGTCTACCATT c.3000
F V T L N E | E E A E L R S D G T K S T I p.1000
. . . . . . g.19391
AAACCAAGCCAGATGTCAGTAGCCAGGATTACCTGTGTTCGGGGCCAGGGACCCAATGAG c.3060
K P S Q M S V A R I T C V R G Q G P N E p.1020
. . . . | 23 . . g.19584
GGTATCCCCTTCATTGATGACTACATCTCTACCCAGGAGCAG | GTGGTGGATTACTTGACT c.3120
G I P F I D D Y I S T Q E Q | V V D Y L T p.1040
. . . . . . g.19644
CAATACTCGGGTATAAAGCCTGGTGACCTCGATGCCAAAATTTCCTCCAAGCACCTAACA c.3180
Q Y S G I K P G D L D A K I S S K H L T p.1060
. . . . . . g.19704
ACTCTCAAGTCTACCTACTTAAAGCTTCGTTTTCTCATTGACATTGGAGTCAAGTTTGTG c.3240
T L K S T Y L K L R F L I D I G V K F V p.1080
. . . . | 24 . . g.19890
GGTCATGGCCTGCAGAAGGACTTCCGGGTCATCAACCTGATG | GTGCCCAAGGACCAAGTC c.3300
G H G L Q K D F R V I N L M | V P K D Q V p.1100
. . . . . . g.19950
CTTGACACTGTCTACCTGTTCCATATGCCCCGAAAACGAATGATTTCCCTGCGATTCCTT c.3360
L D T V Y L F H M P R K R M I S L R F L p.1120
. | 25 . . . . . g.20663
GCTTGGTACTTTCTGG | ACCTGAAGATTCAAGGGGAAACCCATGACAGTATTGAGGATGCC c.3420
A W Y F L D | L K I Q G E T H D S I E D A p.1140
. . . . . . g.20723
CGCACAGCCCTTCAGCTGTACCGAAAGTATCTGGAGCTAAGCAAAAATGGCACTGAGCCT c.3480
R T A L Q L Y R K Y L E L S K N G T E P p.1160
. . . . . . g.20783
GAGTCTTTCCACAAGGTGCTCAAGGGTCTTTATGAGAAGGGCAGAAAGATGGACTGGAAG c.3540
E S F H K V L K G L Y E K G R K M D W K p.1180
. . . | 26 . . . g.21436
GTGCCTGAGCCTGAGGGCCAAACAAGTCCCAAGA | ATGCAGCTGTCTTCTCCTCAGTGCTG c.3600
V P E P E G Q T S P K N | A A V F S S V L p.1200
g.21445
GCGCTCTGA c.3609
A L X p.1202
. . . . . . g.21505
ctacccttcccaaagaaccacggccctctccctttactgttctatagccccagaactggg c.*60
. . . . . . g.21565
agatggcttcctaagttggctataccttgtccacttccagtactggacgtgctcagggtc c.*120
. . . . . . g.21625
tagggtcacagatggtgctattaattgaactggaacacagcagaattgttgcaaaggttc c.*180
. . . . . . g.21685
taggagccagattcattccttcttcattctttgcaaaacagtggtacagacatggagtct c.*240
. . . . . . g.21745
agaattgacccagatggaaagtaattggtattcttaatatcctgggtgactaatatccag c.*300
. . . . . . g.21805
gcagagaagctcctggaaccataactgtaagttcctagctggctagggattgaagtcctg c.*360
. . . . . . g.21865
gacagtgacagaggataccacagtagttcaagacttagcacaagtcaccaactgcttcag c.*420
. . . . . . g.21925
ggatacctggaggggccagcaagtagagtgttggtggcccaagcaaaccagtgttgccaa c.*480
. . . . . . g.21985
taccattgccaaaagggcctttggatcctggacaaagcttggctgccggcttcatttatt c.*540
. . . . . . g.22045
cctgctgatggctgagaagcatctgtcttccatcccacttgcctgtcccaagttttgttc c.*600
. . . . . . g.22105
cattttttaaaaatttgttgtaaactgcatgttttataaaataaaaataaaatatcgttt c.*660
. . . . . . g.22165
gttatttatctcattagagaactgctagtgtgggttctctggcttcagtcttcctctcct c.*720
. . . . . . g.22225
tcctttgaaggtaaaggtccggaatccaaagttatggatatgaaagggtataattaggcc c.*780
. . . . . . g.22285
gggcgcggtggctcacttctgtaatcctagcactttgggaggcagaggtgggtggaacac c.*840
. . . . . . g.22345
gaggtcaggagttaaagaccagcctgaccaagatggtgaaaccccgtctctactaaaaat c.*900
. . . . . . g.22405
acaaaaattagctgggagtggtggatggcgactgtaaccctagctgaggcagaaaattgc c.*960
. . . . . . g.22465
ttcaacccgggaggcggaggttgcagtgagccgagatcacgccactgtatgccagcctgg c.*1020
. . . . . . g.22525
gcgatagggcgagactccgtctcaaaaaaaggggaaaaaggtataatttatgccttttct c.*1080
. . . . . . g.22585
gggcaatgctgggtctttgctatagctgcccagtaccctaagtcagactgaagatgtaca c.*1140
. . . . . . g.22645
gtatggtttccgttaattgtgtaagccgacaaactacaggtcccaggatagcttgagact c.*1200
. . . . . . g.22705
tgtagttgctcacaaagatgggtccggtgctgcggtgcttcctgggagatgtagtttcct c.*1260
. . . . . . g.22765
gtgtattgaaacctggactgctcgctggccggcagcgcaccgttttgaaggtcctagccc c.*1320
. . . . . . g.22825
acctgggctggctcacgcgcacgactagccgctcccatacagcacgcccggactctgtcg c.*1380
g.22831
tcgctt c.*1386
(downstream sequence)
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