(used for variant description)
(last modified September 19, 2017)
This file was created to facilitate the description of sequence variants on transcript NM_001943.3 in the DSG2 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_007072.2, covering DSG2 transcript NM_001943.3.
(upstream sequence)
g.4830
ctggagcc c.-181
. . . . . . g.4890
gcgcctttgggttgggctgggctgggccgcgcaaccgccacgggaagacagccctcgggg c.-121
. . . . . . g.4950
cggggagggagagggtggccgggccggggggaggccggggccagggaggagccgagtgcg c.-61
. . . . . . g.5010
cgctcggggcaggcggcggcgcggagcggtgcggcggcgggaggcggaggcgagggtgcg c.-1
. . . . | 02 . . g.25012
ATGGCGCGGAGCCCGGGACGCGCGTACGCCCTGCTGCTTCTCCTG | ATCTGCTTTAACGTT c.60
M A R S P G R A Y A L L L L L | I C F N V p.20
. . | 03 . . . . g.26600
GGAAGTGGACTTCACTTACAG | GTCTTAAGCACAAGAAATGAAAATAAGCTGCTTCCTAAA c.120
G S G L H L Q | V L S T R N E N K L L P K p.40
. . . . . . g.26660
CATCCTCATTTAGTGCGGCAAAAGCGCGCCTGGATCACCGCCCCCGTGGCTCTTCGGGAG c.180
H P H L V R Q K R A W I T A P V A L R E p.60
. . . | 04 . . . g.27585
GGAGAGGATCTGTCCAAGAAGAATCCAATTGCCAAG | ATACATTCTGATCTTGCAGAAGAA c.240
G E D L S K K N P I A K | I H S D L A E E p.80
. . . . . . g.27645
AGAGGACTCAAAATTACTTACAAATACACTGGAAAAGGGATTACAGAGCCACCTTTTGGT c.300
R G L K I T Y K Y T G K G I T E P P F G p.100
. . . . . . g.27705
ATATTTGTCTTTAACAAAGATACTGGAGAACTGAATGTTACCAGCATTCTTGATCGAGAA c.360
I F V F N K D T G E L N V T S I L D R E p.120
. | 05 . . . . g.27899
GAAACACCATTTTTTCTG | CTAACAGGTTACGCTTTGGATGCAAGAGGAAACAATGTAGAG c.420
E T P F F L | L T G Y A L D A R G N N V E p.140
. . . . . . g.27959
AAACCCTTAGAGCTACGCATTAAGGTTCTTGATATCAATGACAACGAACCAGTGTTCACA c.480
K P L E L R I K V L D I N D N E P V F T p.160
. . . . | 06 . . g.28858
CAGGATGTCTTTGTTGGGTCTGTTGAAGAGTTGAGTGCAGCAC | ATACTCTTGTGATGAAA c.540
Q D V F V G S V E E L S A A H | T L V M K p.180
. . . . . . g.28918
ATCAATGCAACAGATGCAGATGAGCCCAATACCCTGAATTCGAAAATTTCCTATAGAATC c.600
I N A T D A D E P N T L N S K I S Y R I p.200
. . . . . . g.28978
GTATCTCTGGAGCCTGCTTATCCTCCAGTGTTCTACCTAAATAAAGATACAGGAGAGATT c.660
V S L E P A Y P P V F Y L N K D T G E I p.220
. . . | 07 . . . g.31236
TATACAACCAGTGTTACCTTGGACAGAGAG | GAACACAGCAGCTACACTTTGACAGTAGAA c.720
Y T T S V T L D R E | E H S S Y T L T V E p.240
. . . . . . g.31296
GCAAGAGATGGCAATGGAGAAGTTACAGACAAACCTGTAAAACAAGCTCAAGTTCAGATT c.780
A R D G N G E V T D K P V K Q A Q V Q I p.260
. . . . | 08 . g.31473
CGTATTTTGGATGTCAATGACAATATACCTGTAGTAGAAAATAAAGTG | CTTGAAGGGATG c.840
R I L D V N D N I P V V E N K V | L E G M p.280
. . . . . . g.31533
GTTGAAGAAAATCAAGTCAACGTAGAAGTTACGCGCATAAAAGTGTTCGATGCAGATGAA c.900
V E E N Q V N V E V T R I K V F D A D E p.300
. . . . . . g.31593
ATAGGTTCTGATAATTGGCTGGCAAATTTTACATTTGCATCAGGAAATGAAGGAGGTTAT c.960
I G S D N W L A N F T F A S G N E G G Y p.320
. . . . . | 09 . g.37751
TTCCACATAGAAACAGATGCTCAAACTAACGAAGGAATTGTGACCCTTATTAAG | GAAGTA c.1020
F H I E T D A Q T N E G I V T L I K | E V p.340
. . . . . . g.37811
GATTATGAAGAAATGAAGAATCTTGACTTCAGTGTTATTGTCGCTAATAAAGCAGCTTTT c.1080
D Y E E M K N L D F S V I V A N K A A F p.360
. . . . . . g.37871
CACAAGTCGATTAGGAGTAAATACAAGCCTACACCCATTCCCATCAAGGTCAAAGTGAAA c.1140
H K S I R S K Y K P T P I P I K V K V K p.380
. . . . . . g.37931
AATGTGAAAGAAGGCATTCATTTTAAAAGCAGCGTCATCTCAATTTATGTTAGCGAGAGC c.1200
N V K E G I H F K S S V I S I Y V S E S p.400
. . . . . . g.37991
ATGGATAGATCAAGCAAAGGCCAAATAATTGGAAATTTTCAAGCTTTTGATGAGGACACT c.1260
M D R S S K G Q I I G N F Q A F D E D T p.420
. . | 10 . . . . g.42068
GGACTACCAGCCCATGCAAG | ATATGTAAAATTAGAAGATAGAGATAATTGGATCTCTGTG c.1320
G L P A H A R | Y V K L E D R D N W I S V p.440
. . . . . . g.42128
GATTCTGTCACATCTGAAATTAAACTTGCAAAACTTCCTGATTTTGAATCTAGATATGTT c.1380
D S V T S E I K L A K L P D F E S R Y V p.460
. . . . | 11 . . g.42977
CAAAATGGCACATACACTGTAAAGATTGTGGCCATATCAGAAG | ATTATCCTAGAAAAACC c.1440
Q N G T Y T V K I V A I S E D | Y P R K T p.480
. . . . . . g.43037
ATCACTGGCACAGTCCTTATCAATGTTGAAGACATCAACGACAACTGTCCCACACTGATA c.1500
I T G T V L I N V E D I N D N C P T L I p.500
. . . . . . g.43097
GAGCCTGTGCAGACAATCTGTCACGATGCAGAGTATGTGAATGTTACTGCAGAGGACCTG c.1560
E P V Q T I C H D A E Y V N V T A E D L p.520
. . . . . . g.43157
GATGGACACCCAAACAGTGGCCCTTTCAGTTTCTCCGTCATTGACAAACCACCTGGCATG c.1620
D G H P N S G P F S F S V I D K P P G M p.540
. . . | 12 . . . g.45538
GCAGAAAAATGGAAAATAGCACGCCAAGAAA | GTACCAGTGTGCTGCTGCAACAAAGTGAG c.1680
A E K W K I A R Q E S | T S V L L Q Q S E p.560
. . . . . . g.45598
AAAAAGCTTGGGAGAAGTGAAATTCAGTTCCTGATTTCAGACAATCAGGGTTTTAGTTGT c.1740
K K L G R S E I Q F L I S D N Q G F S C p.580
. . . . . . g.45658
CCTGAAAAGCAGGTCCTTACACTCACAGTTTGTGAGTGTCTGCATGGCAGCGGCTGCAGG c.1800
P E K Q V L T L T V C E C L H G S G C R p.600
. . . . . . g.45718
GAAGCACAGCATGACTCCTATGTGGGCCTGGGACCCGCAGCAATTGCGCTCATGATTTTG c.1860
E A Q H D S Y V G L G P A A I A L M I L p.620
. | 13 . . . . g.47992
GCCTTTCTGCTCCTGCTAT | TGGTACCACTTTTACTGCTGATGTGCCATTGCGGAAAGGGC c.1920
A F L L L L L | V P L L L L M C H C G K G p.640
. . . . . . g.48052
GCCAAAGGCTTTACCCCCATACCTGGCACCATAGAGATGCTGCATCCTTGGAATAATGAA c.1980
A K G F T P I P G T I E M L H P W N N E p.660
. . | 14 . . . . g.49317
GGAGCACCACCTGAAGACAAG | GTGGTGCCATCATTTCTGCCAGTGGATCAAGGGGGCAGT c.2040
G A P P E D K | V V P S F L P V D Q G G S p.680
. . . . . . g.49377
CTAGTAGGAAGAAATGGAGTAGGAGGTATGGCCAAGGAAGCCACGATGAAAGGAAGTAGC c.2100
L V G R N G V G G M A K E A T M K G S S p.700
. . . . . . g.49437
TCTGCTTCCATTGTCAAAGGGCAACATGAGATGTCCGAGATGGATGGAAGGTGGGAAGAA c.2160
S A S I V K G Q H E M S E M D G R W E E p.720
. . . . . . g.49497
CACAGAAGCCTGCTTTCTGGTAGAGCTACCCAGTTTACAGGGGCCACAGGCGCTATCATG c.2220
H R S L L S G R A T Q F T G A T G A I M p.740
. . . . . . g.49557
ACCACTGAAACCACGAAGACCGCAAGGGCCACAGGGGCTTCCAGAGACATGGCCGGAGCT c.2280
T T E T T K T A R A T G A S R D M A G A p.760
. . . . . | 15 . g.52485
CAGGCAGCTGCTGTTGCACTGAACGAAGAATTCTTAAGAAATTATTTCACTGAT | AAAGCG c.2340
Q A A A V A L N E E F L R N Y F T D | K A p.780
. . . . . . g.52545
GCCTCTTACACTGAGGAAGATGAAAATCACACAGCCAAAGATTGCCTTCTGGTTTATTCT c.2400
A S Y T E E D E N H T A K D C L L V Y S p.800
. . . . . . g.52605
CAGGAAGAAACTGAATCGCTGAATGCTTCTATTGGTTGTTGCAGTTTTATTGAAGGAGAG c.2460
Q E E T E S L N A S I G C C S F I E G E p.820
. . . . . . g.52665
CTAGATGACCGCTTCTTAGATGATTTGGGACTTAAATTCAAGACACTAGCTGAAGTTTGC c.2520
L D D R F L D D L G L K F K T L A E V C p.840
. . . . . . g.52725
CTGGGTCAAAAAATAGATATAAATAAGGAAATTGAGCAGAGACAAAAACCTGCCACAGAA c.2580
L G Q K I D I N K E I E Q R Q K P A T E p.860
. . . . . . g.52785
ACAAGTATGAACACAGCTTCACATTCACTCTGTGAGCAAACTATGGTTAATTCAGAGAAT c.2640
T S M N T A S H S L C E Q T M V N S E N p.880
. . . . . . g.52845
ACCTACTCCTCTGGCAGTAGCTTCCCAGTTCCAAAATCTTTGCAAGAAGCCAATGCAGAG c.2700
T Y S S G S S F P V P K S L Q E A N A E p.900
. . . . . . g.52905
AAAGTAACTCAGGAAATAGTCACTGAAAGATCTGTGTCTTCTAGGCAGGCGCAAAAGGTA c.2760
K V T Q E I V T E R S V S S R Q A Q K V p.920
. . . . . . g.52965
GCTACACCTCTTCCTGACCCAATGGCTTCTAGAAATGTGATAGCAACAGAAACTTCCTAT c.2820
A T P L P D P M A S R N V I A T E T S Y p.940
. . . . . . g.53025
GTCACAGGGTCCACTATGCCACCAACCACTGTGATCCTGGGTCCTAGCCAGCCACAGAGC c.2880
V T G S T M P P T T V I L G P S Q P Q S p.960
. . . . . . g.53085
CTTATTGTGACAGAGAGGGTGTATGCTCCAGCTTCTACCTTGGTAGATCAGCCTTATGCT c.2940
L I V T E R V Y A P A S T L V D Q P Y A p.980
. . . . . . g.53145
AATGAAGGTACAGTTGTGGTCACTGAAAGAGTAATACAGCCTCATGGGGGTGGATCGAAT c.3000
N E G T V V V T E R V I Q P H G G G S N p.1000
. . . . . . g.53205
CCTCTGGAAGGCACTCAGCATCTTCAAGATGTACCTTACGTCATGGTGAGGGAAAGAGAG c.3060
P L E G T Q H L Q D V P Y V M V R E R E p.1020
. . . . . . g.53265
AGCTTCCTTGCCCCCAGCTCAGGTGTGCAGCCTACTCTGGCCATGCCTAATATAGCAGTA c.3120
S F L A P S S G V Q P T L A M P N I A V p.1040
. . . . . . g.53325
GGACAGAATGTGACAGTGACAGAAAGAGTTCTAGCACCTGCTTCCACTCTGCAATCCAGT c.3180
G Q N V T V T E R V L A P A S T L Q S S p.1060
. . . . . . g.53385
TACCAGATTCCCACTGAAAATTCTATGACGGCTAGGAACACCACGGTGTCTGGAGCTGGA c.3240
Y Q I P T E N S M T A R N T T V S G A G p.1080
. . . . . . g.53445
GTCCCTGGCCCTCTGCCAGATTTTGGTTTAGAGGAATCTGGTCATTCTAATTCTACCATA c.3300
V P G P L P D F G L E E S G H S N S T I p.1100
. . . . . g.53502
ACCACATCTTCCACCAGAGTTACCAAGCATAGCACTGTACAGCATTCTTACTCCTAA c.3357
T T S S T R V T K H S T V Q H S Y S X p.1118
. . . . . . g.53562
acagcagtcagccacaaactgacccagagtttaattagcagtgactaatttcatgtttcc c.*60
. . . . . . g.53622
aatgtacctgatttttcatgagccttacagacacacagagacacatacacattgatctta c.*120
. . . . . . g.53682
aaatttttctcagtcactgatatgcaaaggaccacactgtctctgcttccaggagtattt c.*180
. . . . . . g.53742
tagaaatgttccacaatttactgaagacatagagatgatgctgctgcttaggtgcctttt c.*240
. . . . . . g.53802
agcaagctatgcaaacaatcctgataaaacaagatacatagagagtcaatctggcttctg c.*300
. . . . . . g.53862
agaatttaccaagtgaacagagtacctagttcatcagccgtccagtaaagcaacccagga c.*360
. . . . . . g.53922
aactgactgggtctctttgcctaccgtattaacattaaacattgatgttctgtattctgt c.*420
. . . . . . g.53982
actttactgcacccagcagactttcaacaactcattgatccaaagatacatgcacagtct c.*480
. . . . . . g.54042
gagcaccagctatggtgctcataacttctttaagacttgaaccctttcaatctgtgtgat c.*540
. . . . . . g.54102
tcattaaattggaccattgatgataagaatacacattgtatgtttctgtgcacatgacag c.*600
. . . . . . g.54162
tgtgtgtgtgtgcacgtacatactgtatagtcttaaaaatagcattatactggccagggg c.*660
. . . . . . g.54222
tggtggctaacgcctgtaatcccagcactttgggaggccgaggcgggtggatcaactgtg c.*720
. . . . . . g.54282
gtcaggagtttgagatcagccaggccaacctggtgaaaccccgtctctactaaaaataca c.*780
. . . . . . g.54342
aaaattagctgggcgtgatggtgggcgcctgtaatcccagctacttgggaggctgaggca c.*840
. . . . . . g.54402
ggagaatcacttgaacccgggaggcggaggttgcagtgagccgagatcgcaccattgcac c.*900
. . . . . . g.54462
tccagtctgggcaacagagtgagattccgtctcaaaaaaaaaaagaaaaggaaaaaaaaa c.*960
. . . . . . g.54522
tagcattatacctcttccttgtctcaaccgccatgaaaattctgaacactccaaattcag c.*1020
. . . . . . g.54582
ttgaataatccaaaacaaaatttataagtataaaataattttacttcttatagtaatagt c.*1080
. . . . . . g.54642
atactttaaaaagcctcagggtatattatcttctaaacagctacaattcagtgcagctac c.*1140
. . . . . . g.54702
attaaccaactatgttctctagttgagaacaactaggcctatttcactgctgtgtagcct c.*1200
. . . . . . g.54762
cagtgcctaacatgggtgccaaataaatattcgtagaattacactgaattgtaaaaacca c.*1260
. . . . . . g.54822
ttcgtttttgtttacaattgccaaaaatctcaaaaggccctgtatttatgtaattctttg c.*1320
. . . . . . g.54882
aaattattattttattttgatttctcagttattgactggctgggtgtgacttagtacata c.*1380
. . . . . . g.54942
agtactcaatattataaaaacctcaaataattgacttgattttacacaacatccttccct c.*1440
. . . . . . g.55002
tttctacaagttaatttttttacaaatcatttgggttatctcctaaataggttatatttt c.*1500
. . . . . . g.55062
attgcttctagaaacaatgtttcaaaatatatgtgcattatcagtaataatttgtataaa c.*1560
. . . . . . g.55122
tatttcccacaacaattttcataattttcaaagactaatttcttgactgaagatattttg c.*1620
. . . . . . g.55182
ctagggaagtgaaactttaaaattttgtagattttaaaaaatattgttgaatggtgtcat c.*1680
. . . . . . g.55242
gcaaaggatttatatagtgtgctcccactaactgtacagatcaggacacatatttttaga c.*1740
. . . . . . g.55302
catctaagtctgtagcttaaatggaggttactcttccatcatctagaattgtttacttag c.*1800
. . . . . . g.55362
taattgttgtttcttttattattatagacttactatcagttttattttgccaagtatgca c.*1860
. . . . . . g.55422
acaggtatatcactagtatatgaaaatgtaaatatcacttgtgtactcaaacaaaagttg c.*1920
. . . . . . g.55482
gtcttaagcttccaccttgagcagccttggaaacctaacctgcctcttttagcataatca c.*1980
. . . . . . g.55542
cattttctaaatgattttctttgttcctgaaaaagtgatttgtattagttttacatttgt c.*2040
. . . . . . g.55602
tttttggaagattatatttgtatatgtatcatcataaaatatttaaataaaaagtatctt c.*2100
g.55610
tagagtga c.*2108
(downstream sequence)
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