(used for variant description)
(last modified June 4, 2018)
This file was created to facilitate the description of sequence variants on transcript NM_001100913.2 in the PACS2 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000014.8, covering PACS2 transcript NM_001100913.2.
(upstream sequence)
. . g.18606
ggtggacccccacgactctcccgg c.-481
. . . . . . g.18666
cccttgcccgcggctcccggggggcggggcggggcgccccgggcggggtctgtgcgcagg c.-421
. . . . . . g.18726
cgcgtgagtgcgcgctctcgcgcaccggcgggcggggacgccccgtgaggcgccgccgga c.-361
. . . . . . g.18786
ggaagcgcgcgcgcacctcacttccggcgcgcgctgcgccggcggcgattggacccgagg c.-301
. . . . . . g.18846
cggcgagctggcgccccgcccagccaatcggcggcgccggcgcgggtcggagggcgccgg c.-241
. . . . . . g.18906
gcgcgcgcggggcggccgggggcgcgcggggcgcgggcggggcgccgggcggggcggggc c.-181
. . . . . . g.18966
ggagcggccgcagctcgtcgccgcccgcgggcctgtccgacgccggggcccggcccgtcc c.-121
. . . . . . g.19026
cctccgccgcccggcagccatgtgaccgcgccgccgccctccgcgcgcccggcccgcccg c.-61
. . . . . . g.19086
ccgcgcgtccgcggcccggccgcagccccaggccgccgagggagcggcggggccggcgcc c.-1
. . . . . . g.19146
ATGGCCGAGCGAGGCCGCCTCGGCCTCCCCGGCGCGCCCGGCGCGCTCAACACGCCCGTG c.60
M A E R G R L G L P G A P G A L N T P V p.20
. . . . . | 02 g.52661
CCCATGAACCTGTTCGCCACCTGGGAGGTGGACGGCTCCAGCCCCAGCTGCGTGCCCAG | G c.120
P M N L F A T W E V D G S S P S C V P R | p.40
. . . . . . g.52721
TTGTGCAGCCTGACTCTGAAGAAGCTGGTGGTCTTCAAGGAGCTGGAGAAGGAGCTGATC c.180
L C S L T L K K L V V F K E L E K E L I p.60
. . | 03. . . . g.56578
TCCGTGGTGATCGCTGTCAAGATGCAG | GGCTCCAAACGAATCCTGCGGTCCCATGAGATT c.240
S V V I A V K M Q | G S K R I L R S H E I p.80
. . . . . | 04. g.59222
GTGCTGCCCCCCAGTGGACAAGTGGAGACAGACCTGGCCCTGACCTTCTCCTTGCAG | TAT c.300
V L P P S G Q V E T D L A L T F S L Q | Y p.100
. . . . . . g.59282
CCTCACTTCTTGAAGAGGGAAGGCAACAAGCTTCAGATCATGCTGCAGCGCAGAAAGCGC c.360
P H F L K R E G N K L Q I M L Q R R K R p.120
. . . . . . g.59342
TACAAGAACAGAACCATCCTGGGCTACAAGACGCTGGCCGCGGGCTCCATCAGCATGGCT c.420
Y K N R T I L G Y K T L A A G S I S M A p.140
| 05 . . . . . . g.71437
GAG | GTGATGCAACACCCGTCTGAAGGTGGCCAGGTGCTGAGCCTCTGCAGCAGCATCAAG c.480
E | V M Q H P S E G G Q V L S L C S S I K p.160
. . . . . . g.71497
GAGGCCCCCGTCAAGGCGGCCGAGATCTGGATCGCCTCCCTGTCCAGCCAGCCCATTGAC c.540
E A P V K A A E I W I A S L S S Q P I D p.180
. . . . | 06 . . g.72255
CACGAAGACAGCACCATGCAGGCCGGCCCCAAGGCCAAGTCCACGG | ATAACTACTCCGAG c.600
H E D S T M Q A G P K A K S T D | N Y S E p.200
. . . . . . g.72315
GAGGAGTATGAGAGCTTCTCCTCCGAGCAGGAGGCCAGTGACGACGCCGTGCAGGGGCAG c.660
E E Y E S F S S E Q E A S D D A V Q G Q p.220
| 07 . . . . . . g.72686
| GACTTGGACGAGGACGACTTTGACGTGGGGAAGCCGAAGAAGCAGCGGAGATCGATTGTA c.720
| D L D E D D F D V G K P K K Q R R S I V p.240
. . | 08 . . . . g.74047
AGAACGACGTCCATGACCAGG | CAACAGAACTTCAAGCAGAAAGTGGTAGCGCTGCTGCGG c.780
R T T S M T R | Q Q N F K Q K V V A L L R p.260
. . | 09 . . . . g.80974
AGGTTCAAAGTGTCCGACGAG | GTCCTGGACTCGGAGCAGGACCCTGCGGAGCACATCCCC c.840
R F K V S D E | V L D S E Q D P A E H I P p.280
. . . . . . g.81034
GAGGCAGAGGAGGACCTGGACCTCCTGTATGACACCCTGGACATGGAGCACCCCAGCGAC c.900
E A E E D L D L L Y D T L D M E H P S D p.300
. . . . . | 10 g.83907
AGCGGCCCCGACATGGAGGATGACGACAGCGTCCTCAGCACCCCCAAGCCGAAGCTGCG | G c.960
S G P D M E D D D S V L S T P K P K L R | p.320
. . . . . . g.83967
CCATACTTTGAAGGCCTGTCGCACTCGAGCTCGCAGACGGAGATTGGGAGCATCCACAGC c.1020
P Y F E G L S H S S S Q T E I G S I H S p.340
. . . | 11 . . . g.84277
GCCCGCAGCCACAAGGAGCCCCCAAGCCCG | GCTGACGTGCCCGAGAAGACGCGGTCCCTG c.1080
A R S H K E P P S P | A D V P E K T R S L p.360
. . . . | 12 . . g.85139
GGAGGCAGGCAGCCGAGCGACAGTGTCTCTGACACGGTGGCCCTC | GGTGTGCCAGGCCCG c.1140
G G R Q P S D S V S D T V A L | G V P G P p.380
. . . . . . g.85199
AGGGAGCACCCTGGACAGCCTGAGGACAGCCCCGAGGCTGAGGCCTCCACCCTGGATGTG c.1200
R E H P G Q P E D S P E A E A S T L D V p.400
. . . . . . g.85259
TTCACGGAGAGGCTGCCGCCCAGCGGGAGGATCACCAAGACAGAGTCCCTTGTCATCCCC c.1260
F T E R L P P S G R I T K T E S L V I P p.420
| 13 . . . . . g.86133
TCCACCAG | GTCCGAGGGGAAGCAGGCTGGCCGACGGGGCCGGAGCACATCCTTGAAGGAG c.1320
S T R | S E G K Q A G R R G R S T S L K E p.440
. . . . . . g.86193
CGGCAGGCAGCACGGCCCCAGAATGAGCGGGCCAACAGCCTGGACAACGAGCGCTGCCCG c.1380
R Q A A R P Q N E R A N S L D N E R C P p.460
. . . | 14 . . . g.86671
GACGCCCGGAGCCAGCTACAGGTGCAGCTGCAG | ATCCCCAGGAAGACTGTGTATGACCAG c.1440
D A R S Q L Q V Q L Q | I P R K T V Y D Q p.480
. . . . . . g.86731
CTCAACCACATCCTCATCTCCGATGACCAGCTTCCCGAAAACATCATCCTTGTCAACACC c.1500
L N H I L I S D D Q L P E N I I L V N T p.500
. | 15 . . . . g.87016
TCGGACTGGCAGGGGCAG | TTCCTCTCCGACGTCCTGCAGAGGCACACGCTCCCCGTGGTG c.1560
S D W Q G Q | F L S D V L Q R H T L P V V p.520
. . . . . . g.87076
TGCACGTGCTCTCCTGCGGACGTCCAGGCGGCCTTCAGCACCATCGTCTCACGGATACAG c.1620
C T C S P A D V Q A A F S T I V S R I Q p.540
| 16 . . . . . . g.87581
AGATA | CTGCAACTGCAATTCCCAGCCCCCGACCCCCGTGAAGATCGCCGTGGCGGGAGCG c.1680
R Y | C N C N S Q P P T P V K I A V A G A p.560
. . . . . . g.87641
CAGCATTACCTCAGTGCCATCCTGCGGCTCTTTGTGGAGCAGCTGTCCCACAAGACACCC c.1740
Q H Y L S A I L R L F V E Q L S H K T P p.580
. . . . | 17 . . g.88540
GACTGGCTCGGCTACATGCGCTTCCTGGTCATCCCACTGG | GCTCCCACCCCGTGGCCAGG c.1800
D W L G Y M R F L V I P L G | S H P V A R p.600
. . . . . . g.88600
TACCTAGGCTCCGTGGACTACCGCTACAACAACTTCTTCCAGGACCTGGCCTGGAGAGAC c.1860
Y L G S V D Y R Y N N F F Q D L A W R D p.620
. . . | 18 . . . g.89075
CTGTTCAACAAGCTGGAGGCCCAGAGTGCGG | TACAGGACACGCCAGACATTGTGTCACGC c.1920
L F N K L E A Q S A V | Q D T P D I V S R p.640
. . . . . . g.89135
ATCACGCAGTACATCGCAGGGGCCAACTGTGCCCACCAGCTCCCCATCGCAGAGGCCATG c.1980
I T Q Y I A G A N C A H Q L P I A E A M p.660
. . | 19 . . . | 20 . g.94135
CTGACCTACAAGCAGAAGAG | GAAAAAGCATTTTCATTTTGACTTTACCCTAAG | CCCTGAC c.2040
L T Y K Q K R | K K H F H F D F T L S | P D p.680
. . . | 21 . . . g.95398
GAAGAGTCCTCCCAAAAGTTCATTCCCTTTGTCGGG | GTTGTGAAGGTTGGAATTGTGGAG c.2100
E E S S Q K F I P F V G | V V K V G I V E p.700
. | 22 . . . . g.95839
CCATCCTCGGCCACATCAG | GCGACTCGGACGACGCGGCCCCCTCGGGCTCTGGCACGCTC c.2160
P S S A T S G | D S D D A A P S G S G T L p.720
. . . . . . g.95899
TCCTCCACCCCGCCGTCCGCATCTCCTGCGGCCAAGGAGGCCTCACCCACCCCGCCCTCC c.2220
S S T P P S A S P A A K E A S P T P P S p.740
. . . | 23 . . . g.96811
TCCCCGTCGGTGAGCGGAGGCCTGTCCTCCCCCAG | CCAGGGTGTCGGCGCCGAGCTGATG c.2280
S P S V S G G L S S P S | Q G V G A E L M p.760
. . . . . . g.96871
GGGCTGCAGGTGGACTACTGGACGGCAGCACAGCCTGCGGACAGGAAGAGGGACGCCGAG c.2340
G L Q V D Y W T A A Q P A D R K R D A E p.780
. . . . . . g.96931
AAGAAGGACCTGCCTGTCACCAAAAACACGCTCAAGTGCACTTTCCGGTCCCTCCAGGTC c.2400
K K D L P V T K N T L K C T F R S L Q V p.800
. . . . . . g.96991
AGCAGGCTGCCCAGCAGCGGCGAGGCTGCAGCCACGCCCACCATGTCCATGACCGTGGTC c.2460
S R L P S S G E A A A T P T M S M T V V p.820
. . | 24 . . . . g.97427
ACCAAGGAGAAGAACAAGAAGG | TGATGTTTCTGCCCAAGAAAGCGAAGGACAAGGACGTG c.2520
T K E K N K K V | M F L P K K A K D K D V p.840
. . . . . . g.97487
GAGTCTAAGAGCCAGTGCATTGAGGGCATCAGCCGGCTCATCTGCACTGCCAGGCAGCAG c.2580
E S K S Q C I E G I S R L I C T A R Q Q p.860
. | 25 . . . . . g.98765
CAGAACATGCTGCGGG | TCCTCATCGACGGCGTGGAGTGCAGCGACGTCAAGTTCTTCCAG c.2640
Q N M L R V | L I D G V E C S D V K F F Q p.880
. . . . . . g.98825
CTGGCCGCGCAGTGGTCCTCGCACGTGAAGCACTTCCCCATCTGCATCTTCGGACACTCC c.2700
L A A Q W S S H V K H F P I C I F G H S p.900
. g.98840
AAGGCCACCTTCTAG c.2715
K A T F X p.904
. . . . . . g.98900
ccccacccaccagggggcccacctcctgccccatgctgtgaggggcccagctgcatttct c.*60
. . . . . . g.98960
gttaacatttcagtttactacagagacagacgcttaaaacacaaagagaaacagtcttaa c.*120
. . . . . . g.99020
gtatgaatgtgctcacaacgtggaaactaacgggggagctcctgccaggagccgaataac c.*180
. . . . . . g.99080
tgctctgcttattaacccgaacgttcggcccggggctgggaagccagaaggacgatgctg c.*240
. . . . . . g.99140
agccatggatcgcggaaggcgtcctctggcctcaggagccacccagagcctcacaggctg c.*300
. . . . . . g.99200
agttcttgcctctgtgtcctgtccttcctggaagtcaggactctgcttcctcagggagcc c.*360
. . . . . . g.99260
cggggaaggcggagctcagtggccacaggccgagggccatggggccgctcagtcccgttg c.*420
. . . . . . g.99320
gggttgtcctgagttgagcctgggggggccgtcctgcccgcctaagagatgcccccagca c.*480
. . . . . . g.99380
ccgcacactcgtggttcccaataaactcctgcctgcggcggaggttttatagcagcagat c.*540
. . . . . . g.99440
atttttaatgcttttcaatacatgttctaatgtagctgccaaacatgttgctcttctgaa c.*600
. . . . . . g.99500
gtccccctggggctgggcagagccagcagagcctgcccccacttccccagcccctgcccc c.*660
. . . . . . g.99560
accccgcctcacaccttccccactctcaggctgttcttgaaacaccatgaggcttctgcg c.*720
. . . . . . g.99620
tgtagtccctgccccaaacttagcaagcacaggggcctccacagcccaggtggccccaga c.*780
. . . . . . g.99680
aaatgttccagagcccagcttggtacatagtgagatgctgctggggttggcctgaggtgg c.*840
. . . . . . g.99740
gggccacttcctccaccccagtgggtatgtctgaggtcagccatggggatatctgggttg c.*900
. . . . . . g.99800
agattcaggttttggtgaatatggggcaggcgtccagatgtgtttgtgtcacctgctgca c.*960
. . . . . . g.99860
acgctgtagccaatgaagattccagcgggatggcctgaccagcggggccggcactttgga c.*1020
. . . . . . g.99920
gccgtgggtgcagccaggtaccccgtgcagggcctgggaggctctccaggccacagtcct c.*1080
. . . . . . g.99980
cagagcgtgttgggtcccatgttgtgtgtgggttccatgccctccacacagcaggagagg c.*1140
. . . . . . g.100040
gcttccctgaccacacctgccccctcagtcctgcttctccccagtaagcctgcactgtgg c.*1200
. . . . . . g.100100
ggtctccataggaggagctggggaagctggggccctcccaggggtcctgatcgaccctgg c.*1260
. . . . . . g.100160
gggctcttggcctggtttcgtaagatggagcactgcaaaaggccatgctcagaaagcaaa c.*1320
. . . . . . g.100220
cgcagggcagggtgggcctcgagccggggctggaggggtctccacccttgctggcctgag c.*1380
. . . . . . g.100280
agatggcccacatttcttacttgtgaccgccctgctcttcctggccgccccccccaggtg c.*1440
. . . . . . g.100340
gctgaacagggtgattttgttgtggtgaggggccaggatgtggcctggtgtgcagcctca c.*1500
. . . . . . g.100400
gctccctgggttcaggcctcagaggtagcctgtgtgcaggaggcagagccccagcccctc c.*1560
. . . . . . g.100460
ccagccagagcccctccacaccagggactcctccttcacctgggaccaggagcctggggc c.*1620
. . . . . . g.100520
acaccccagggtgggggagagggtaggaaggtctcccattgaatcctggcttcaggctct c.*1680
. . . . . . g.100580
gccccgagaagtgtctgcggtgagggtgtgagccccgggctgatggcctctgaccccggc c.*1740
. . . . . . g.100640
aacaggtgggaccctgactgactcgttcagctgcccccaagctgggctgcagagcatctg c.*1800
. . . . . . g.100700
tttttctgctctccagtttcttttctttttttttttttttttttttgagatggagtcttg c.*1860
. . . . . . g.100760
ctctgttgcccaggctggagtgcagtggcatgatctcagctcactgcagcctccgtctcc c.*1920
. . . . . . g.100820
caggttcaagcagttctcctgcctcagcctcccgagtagctgggattacaggcgtgtgcc c.*1980
. . . . . . g.100880
accacacctggctattttttttgtatttttagtagagatggggttttgccatgttggcca c.*2040
. . . . . . g.100940
ggctggtcttgaactcctgacctcaagtgatccacccgcctcggcctcccaaagtgctgg c.*2100
. . . . . . g.101000
gattacaggcgtgagtcaccgcgtcctgcctgctcttcctgtttctttcccaagggtcac c.*2160
. . . . . . g.101060
actcagtagggagatgaaggtggaaacatccttgctgtggctttctggcctcagagcagg c.*2220
. . . . . . g.101120
ttttagaggaaggggccacaggctgcctagtgcatcctggctgtgggcagcccctttcct c.*2280
. . . . . . g.101180
ggagccctcctgcctaccccgtacctcccatctggctgcacagctccatccttagccacg c.*2340
. . . . . . g.101240
caaggggagaacatgggcagagtctccatccagcagctgggggttctggtggcactccct c.*2400
. . . . . . g.101300
gtgcccctgctgctgctgggctgtgggtctgccctgcacccaggagccccacggtccatc c.*2460
. . . . . . g.101360
ccccacaccatgcccagcaccagggaggttgggcagacaagacctgggccatgccagccc c.*2520
. . . . . . g.101420
tctgtgcctcggttttcccactggttacacaggatggtcgcattttccctgcctacctca c.*2580
. . . . . . g.101480
cagagctgttctgagggtgcatggaggagcactctgtcccaccaaggacaactagaaacc c.*2640
. . . . . . g.101540
aaagccatctgacagccagtgcggtaagggcgggggatgtgtgtgtgaggtgtgcacacc c.*2700
. . . . . . g.101600
ccccgagaacctggccctggactggcctcacaggacaggaggcagccccttgtagagcta c.*2760
. . . . . . g.101660
gggctcagccccatcagtctcaaaggttaagccaccagtcaccaccgaggcacccctcag c.*2820
. . . . . . g.101720
gcctggtggccactgtccactattacgtagacagaccccaccctcacccaggccagctgt c.*2880
. . . . . . g.101780
gggccagtcccgccctgcaatctggtctgctgccttcctcttccatgttggtccccttgg c.*2940
. . . . . . g.101840
ccactgtctctgggcatgcaagccagtgtcctggttcagtgcctcggccagagctggggc c.*3000
. . . . . . g.101900
aggagaggggcctctgggtgagagctgggggtgtctctgcagggtactggcagccttgcc c.*3060
. . . . . . g.101960
acactgtcctcattcccagatggaaagacctgagtgcctctcgccttcctccgggaatga c.*3120
. . . . . . g.102020
attcctcatgaaaatgaccaggccacttcttccgagggccaggccgccccctccccgaga c.*3180
. . . . . . g.102080
cctgtcctgccgtccgcgggtgtgtggcctgtaggggactgagagctgggcttgctgggc c.*3240
. . . . . . g.102140
acctctggaatctgaccctgtgggccaaagaagcaccactgtagtttctgcagaccccca c.*3300
. . . . . . g.102200
tgcggttcattgtgcattgtttggtttctaggatgtatgtgttgctagttttttttaatg c.*3360
. . . . . . g.102260
aaaccctggattaatgtaaatagctttttggggaacggattctaatgtcacgtatgtgac c.*3420
. . . . . g.102315
cgtgtggactatttcaaggtgctgatgcaacactaataaacctggaggggccggc c.*3475
(downstream sequence)
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