(used for variant description)
(last modified July 20, 2016)
This file was created to facilitate the description of sequence variants on transcript NM_003749.2 in the IRS2 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_008154.1, covering IRS2 transcript NM_003749.2.
(upstream sequence)
. . . g.5034
cggggaccgcgacgagcccgggtcgccgttggca c.-481
. . . . . . g.5094
gcagcagcagcaacaccagcagcagcagcagccccggcggcggcgcggaccccgagcgcc c.-421
. . . . . . g.5154
cgggcgcaccccggcttcccggagcgcgacgcggcggcagcagccccggtgcggccgcgc c.-361
. . . . . . g.5214
gcgccttaggctcggccccgcggctcggggaccccgactcccggcccagcgagcgcgtcc c.-301
. . . . . . g.5274
cccggcgccgcccgagagcccgaggaggcagcggccgcaggcagccggggaggggggcgg c.-241
. . . . . . g.5334
ccaccgcccgcgccgggcatcctcaggagccccagagcgcggagggcgcggcgccgccga c.-181
. . . . . . g.5394
gcggtgctggcccccgcgggcctccccggaccttccccaccgcctgggcccgagggacgc c.-121
. . . . . . g.5454
gtgatcgggcgggcggccgggcgcaagggtgggagggagccgcccccgcccgcgccccct c.-61
. . . . . . g.5514
ccgcccctcgccccaacccctgggcgccgggcccgggccgcgcggcctgaagcgcccgcg c.-1
. . . . . . g.5574
ATGGCGAGCCCGCCGCGGCACGGGCCGCCCGGGCCGGCGAGCGGAGACGGCCCCAACCTC c.60
M A S P P R H G P P G P A S G D G P N L p.20
. . . . . . g.5634
AACAACAACAACAACAACAACAACCACAGCGTGCGCAAGTGCGGCTACCTGCGCAAGCAG c.120
N N N N N N N N H S V R K C G Y L R K Q p.40
. . . . . . g.5694
AAGCATGGCCACAAGCGCTTCTTCGTGCTGCGCGGACCCGGCGCGGGCGGCGACGAGGCG c.180
K H G H K R F F V L R G P G A G G D E A p.60
. . . . . . g.5754
ACGGCGGGCGGGGGGTCGGCGCCGCAACCGCCGCGGCTCGAGTACTACGAGAGCGAGAAA c.240
T A G G G S A P Q P P R L E Y Y E S E K p.80
. . . . . . g.5814
AAGTGGCGGAGCAAGGCAGGCGCGCCGAAACGGGTGATCGCTCTCGACTGCTGCCTGAAC c.300
K W R S K A G A P K R V I A L D C C L N p.100
. . . . . . g.5874
ATCAACAAGCGCGCCGACGCCAAGCACAAGTACCTGATCGCCCTCTACACCAAGGACGAG c.360
I N K R A D A K H K Y L I A L Y T K D E p.120
. . . . . . g.5934
TACTTCGCCGTGGCCGCCGAGAACGAGCAGGAGCAGGAGGGCTGGTACCGCGCGCTCACC c.420
Y F A V A A E N E Q E Q E G W Y R A L T p.140
. . . . . . g.5994
GACCTGGTCAGCGAGGGCCGCGCGGCCGCCGGAGACGCGCCCCCCGCCGCCGCGCCCGCC c.480
D L V S E G R A A A G D A P P A A A P A p.160
. . . . . . g.6054
GCGTCCTGCAGCGCCTCCCTGCCCGGCGCCCTGGGCGGCTCTGCCGGCGCCGCCGGGGCC c.540
A S C S A S L P G A L G G S A G A A G A p.180
. . . . . . g.6114
GAGGACAGCTACGGGCTGGTGGCTCCCGCCACGGCCGCCTACCGTGAGGTGTGGCAGGTG c.600
E D S Y G L V A P A T A A Y R E V W Q V p.200
. . . . . . g.6174
AACCTGAAGCCCAAGGGTCTGGGCCAGAGCAAGAACCTGACGGGGGTGTACCGTCTGTGC c.660
N L K P K G L G Q S K N L T G V Y R L C p.220
. . . . . . g.6234
CTGTCTGCGCGCACCATCGGCTTCGTGAAGCTCAACTGCGAGCAGCCGTCGGTGACGCTG c.720
L S A R T I G F V K L N C E Q P S V T L p.240
. . . . . . g.6294
CAGCTCATGAACATCCGCCGCTGCGGCCACTCGGACAGCTTCTTCTTCATCGAGGTGGGC c.780
Q L M N I R R C G H S D S F F F I E V G p.260
. . . . . . g.6354
CGCTCGGCCGTCACAGGCCCCGGCGAGCTGTGGATGCAGGCGGACGACTCGGTGGTGGCG c.840
R S A V T G P G E L W M Q A D D S V V A p.280
. . . . . . g.6414
CAGAACATCCACGAGACCATCCTGGAGGCCATGAAGGCGCTCAAGGAGCTCTTCGAGTTC c.900
Q N I H E T I L E A M K A L K E L F E F p.300
. . . . . . g.6474
CGGCCGCGCAGTAAGAGCCAATCGTCGGGGTCGTCGGCCACGCACCCCATCAGCGTCCCC c.960
R P R S K S Q S S G S S A T H P I S V P p.320
. . . . . . g.6534
GGCGCGCGCCGCCACCACCACCTGGTCAACCTGCCCCCCAGCCAGACGGGCCTGGTGCGC c.1020
G A R R H H H L V N L P P S Q T G L V R p.340
. . . . . . g.6594
CGCTCGCGCACCGACAGCCTGGCCGCCACCCCGCCGGCGGCCAAGTGCAGCTCGTGCCGG c.1080
R S R T D S L A A T P P A A K C S S C R p.360
. . . . . . g.6654
GTGCGCACCGCCAGCGAGGGCGACGGCGGCGCGGCGGCGGGAGCGGCGGCCGCGGGCGCC c.1140
V R T A S E G D G G A A A G A A A A G A p.380
. . . . . . g.6714
AGGCCGGTGTCGGTGGCTGGGAGCCCCCTGAGCCCCGGGCCGGTGCGCGCGCCCCTGAGC c.1200
R P V S V A G S P L S P G P V R A P L S p.400
. . . . . . g.6774
CGCTCGCACACCCTGAGCGGCGGCTGCGGCGGCCGCGGGAGCAAGGTGGCGCTGCTGCCG c.1260
R S H T L S G G C G G R G S K V A L L P p.420
. . . . . . g.6834
GCAGGGGGCGCGCTGCAACACAGCCGCTCCATGTCCATGCCCGTGGCGCACTCGCCGCCC c.1320
A G G A L Q H S R S M S M P V A H S P P p.440
. . . . . . g.6894
GCCGCCACCAGCCCCGGCTCCCTGTCGTCCAGCAGCGGCCACGGCTCGGGCTCCTACCCG c.1380
A A T S P G S L S S S S G H G S G S Y P p.460
. . . . . . g.6954
CCGCCGCCCGGCCCGCACCCGCCTCTGCCGCATCCGCTGCACCACGGCCCCGGCCAGCGG c.1440
P P P G P H P P L P H P L H H G P G Q R p.480
. . . . . . g.7014
CCCTCCAGCGGCAGCGCCTCCGCCTCGGGCTCCCCCAGCGACCCCGGCTTCATGTCCCTG c.1500
P S S G S A S A S G S P S D P G F M S L p.500
. . . . . . g.7074
GACGAGTACGGCTCCAGCCCAGGCGACCTGCGCGCCTTCTGCAGCCACCGAAGCAACACG c.1560
D E Y G S S P G D L R A F C S H R S N T p.520
. . . . . . g.7134
CCCGAGTCCATCGCGGAGACGCCCCCGGCCCGAGACGGCGGCGGCGGCGGTGAGTTCTAC c.1620
P E S I A E T P P A R D G G G G G E F Y p.540
. . . . . . g.7194
GGGTACATGACCATGGACAGGCCCCTGAGCCACTGTGGCCGCTCCTACCGCCGGGTCTCG c.1680
G Y M T M D R P L S H C G R S Y R R V S p.560
. . . . . . g.7254
GGGGACGCGGCCCAGGACCTGGACCGAGGGCTGCGCAAGAGGACCTACTCCCTGACCACG c.1740
G D A A Q D L D R G L R K R T Y S L T T p.580
. . . . . . g.7314
CCAGCCCGGCAGCGGCCGGTGCCCCAGCCCTCCTCTGCCTCGCTGGATGAATACACCCTG c.1800
P A R Q R P V P Q P S S A S L D E Y T L p.600
. . . . . . g.7374
ATGCGGGCCACCTTCTCGGGCAGCGCGGGCCGCCTCTGCCCGTCCTGCCCCGCGTCCTCT c.1860
M R A T F S G S A G R L C P S C P A S S p.620
. . . . . . g.7434
CCCAAGGTGGCCTACCACCCCTACCCAGAGGACTACGGAGACATCGAGATCGGCTCCCAC c.1920
P K V A Y H P Y P E D Y G D I E I G S H p.640
. . . . . . g.7494
AGGAGCTCCAGCAGCAACCTGGGGGCAGACGACGGCTACATGCCCATGACGCCCGGCGCG c.1980
R S S S S N L G A D D G Y M P M T P G A p.660
. . . . . . g.7554
GCCCTCGCGGGCAGTGGGAGCGGCAGCTGCAGGAGCGACGACTACATGCCCATGAGCCCC c.2040
A L A G S G S G S C R S D D Y M P M S P p.680
. . . . . . g.7614
GCCAGCGTGTCCGCCCCCAAGCAGATCTTGCAGCCCAGGGCCGCCGCCGCCGCCGCCGCC c.2100
A S V S A P K Q I L Q P R A A A A A A A p.700
. . . . . . g.7674
GCCGTGCCTTCTGCGGGGCCTGCGGGGCCAGCACCCACCTCTGCGGCGGGCAGGACATTC c.2160
A V P S A G P A G P A P T S A A G R T F p.720
. . . . . . g.7734
CCGGCGAGCGGGGGCGGCTACAAGGCCAGCTCGCCCGCCGAGAGCTCCCCCGAGGACAGT c.2220
P A S G G G Y K A S S P A E S S P E D S p.740
. . . . . . g.7794
GGGTACATGCGCATGTGGTGCGGTTCCAAGCTGTCCATGGAGCATGCAGATGGCAAGCTG c.2280
G Y M R M W C G S K L S M E H A D G K L p.760
. . . . . . g.7854
CTGCCCAACGGGGACTACCTCAACGTGTCCCCCAGCGACGCGGTCACCACGGGCACCCCG c.2340
L P N G D Y L N V S P S D A V T T G T P p.780
. . . . . . g.7914
CCCGACTTCTTCTCCGCAGCCCTGCACCCCGGCGGGGAGCCGCTCAGGGGCGTTCCCGGC c.2400
P D F F S A A L H P G G E P L R G V P G p.800
. . . . . . g.7974
TGCTGCTACAGCTCCTTGCCCCGCTCCTACAAGGCCCCCTACACCTGTGGCGGGGACAGC c.2460
C C Y S S L P R S Y K A P Y T C G G D S p.820
. . . . . . g.8034
GACCAGTACGTGCTCATGAGCTCCCCCGTGGGGCGCATCCTGGAGGAGGAGCGTCTGGAG c.2520
D Q Y V L M S S P V G R I L E E E R L E p.840
. . . . . . g.8094
CCTCAGGCCACGCCAGGGCCCAGCCAGGCGGCCAGCGCCTTCGGGGCCGGCCCCACGCAG c.2580
P Q A T P G P S Q A A S A F G A G P T Q p.860
. . . . . . g.8154
CCCCCTCACCCTGTAGTGCCTTCGCCCGTGCGGCCTAGCGGCGGCCGCCCGGAGGGCTTC c.2640
P P H P V V P S P V R P S G G R P E G F p.880
. . . . . . g.8214
TTGGGCCAGCGCGGCCGGGCGGTGAGGCCCACGCGCCTGTCCCTGGAGGGGCTGCCCAGC c.2700
L G Q R G R A V R P T R L S L E G L P S p.900
. . . . . . g.8274
CTGCCCAGCATGCACGAGTACCCACTGCCACCGGAGCCCAAGAGCCCCGGCGAGTACATC c.2760
L P S M H E Y P L P P E P K S P G E Y I p.920
. . . . . . g.8334
AACATCGACTTTGGCGAGCCCGGGGCCCGCCTGTCGCCGCCCGCGCCTCCCCTGCTGGCG c.2820
N I D F G E P G A R L S P P A P P L L A p.940
. . . . . . g.8394
TCGGCGGCCTCGTCCTCCTCGCTCTTGTCCGCCAGCAGCCCGGCCTCGTCGCTGGGCTCA c.2880
S A A S S S S L L S A S S P A S S L G S p.960
. . . . . . g.8454
GGCACCCCGGGCACCAGCAGCGACAGCCGGCAGCGGTCTCCGCTCTCCGACTACATGAAC c.2940
G T P G T S S D S R Q R S P L S D Y M N p.980
. . . . . . g.8514
CTCGACTTCAGCTCCCCCAAGTCTCCTAAGCCGGGCGCCCCGAGCGGCCACCCCGTGGGC c.3000
L D F S S P K S P K P G A P S G H P V G p.1000
. . . . . . g.8574
TCCTTGGACGGCCTCCTGTCCCCCGAGGCCTCCTCCCCGTATCCGCCGTTGCCCCCGCGT c.3060
S L D G L L S P E A S S P Y P P L P P R p.1020
. . . . . . g.8634
CCGTCCGCGTCCCCGTCGTCGTCTCTGCAGCCGCCGCCACCGCCGCCGGCCCCGGGGGAG c.3120
P S A S P S S S L Q P P P P P P A P G E p.1040
. . . . . . g.8694
CTGTACCGCCTGCCCCCCGCCTCGGCCGTTGCCACCGCCCAGGGCCCGGGCGCCGCCTCA c.3180
L Y R L P P A S A V A T A Q G P G A A S p.1060
. . . . . . g.8754
TCGTTGTCCTCGGACACCGGGGACAATGGTGACTACACCGAGATGGCTTTTGGTGTGGCC c.3240
S L S S D T G D N G D Y T E M A F G V A p.1080
. . . . . . g.8814
GCCACCCCGCCGCAACCTATCGCGGCCCCCCCGAAGCCAGAAGCTGCCCGCGTGGCCAGC c.3300
A T P P Q P I A A P P K P E A A R V A S p.1100
. . . . . . g.8874
CCGACGTCGGGCGTGAAGAGGCTGAGCCTCATGGAGCAGGTGTCGGGAGTCGAGGCCTTC c.3360
P T S G V K R L S L M E Q V S G V E A F p.1120
. . . . . . g.8934
CTGCAGGCCAGCCAGCCCCCGGACCCCCACCGCGGCGCCAAGGTCATCCGCGCAGACCCG c.3420
L Q A S Q P P D P H R G A K V I R A D P p.1140
. . . . . . g.8994
CAGGGGGGCCGCCGCCGCCACAGTTCCGAGACCTTCTCCTCCACCACGACGGTCACCCCC c.3480
Q G G R R R H S S E T F S S T T T V T P p.1160
. . . . . . g.9054
GTGTCCCCGTCCTTCGCCCACAACCCCAAGCGCCACAACTCGGCCTCCGTGGAAAATGTC c.3540
V S P S F A H N P K R H N S A S V E N V p.1180
. . . . . . g.9114
TCTCTCAGGAAAAGCAGCGAGGGCGGCGTGGGTGTCGGCCCTGGAGGGGGCGACGAGCCG c.3600
S L R K S S E G G V G V G P G G G D E P p.1200
. . . . . . g.9174
CCCACCTCCCCACGACAGTTGCAGCCGGCGCCCCCTTTGGCACCGCAGGGCCGGCCGTGG c.3660
P T S P R Q L Q P A P P L A P Q G R P W p.1220
. . . . . . g.9234
ACCCCGGGTCAGCCCGGGGGCTTGGTCGGTTGTCCTGGGAGCGGTGGATCGCCCATGCGC c.3720
T P G Q P G G L V G C P G S G G S P M R p.1240
. . . . . . g.9294
AGAGAGACCTCTGCCGGCTTCCAGAATGGTCTCAACTACATCGCCATCGACGTGAGGGAG c.3780
R E T S A G F Q N G L N Y I A I D V R E p.1260
. . . . . . g.9354
GAGCCCGGGCTGCCACCCCAGCCGCAGCCGCCGCCGCCGCCGCTTCCTCAGCCGGGAGAC c.3840
E P G L P P Q P Q P P P P P L P Q P G D p.1280
. . . . . . g.9414
AAGAGCTCCTGGGGCCGGACCCGAAGCCTCGGGGGTCTCATCAGCGCTGTGGGCGTCGGC c.3900
K S S W G R T R S L G G L I S A V G V G p.1300
. . . . . . g.9474
AGCACCGGCGGCGGGTGCGGGGGGCCGGGTCCCGGTGCCCTGCCCCCTGCCAACACCTAC c.3960
S T G G G C G G P G P G A L P P A N T Y p.1320
. . . . . | 02 g.35267
GCCAGCATTGACTTCTTGTCCCACCACTTGAAGGAGGCCACCATCGTGAAAG | AGTGA c.4017
A S I D F L S H H L K E A T I V K E | X p.1338
. . . . . . g.35327
agatctgtctggctttatcaccaggatgtcacatgtcagagagtatcattaaaagaagac c.*60
. . . . . . g.35387
gctcagcactgtttcagcccgaagctgcttgcagttttcttttggatctgagcaatgact c.*120
. . . . . . g.35447
gtgtttggaaacatctgtggactctgttagatgaggcaccaacaaggcaaggtcacctgc c.*180
. . . . . . g.35507
ctctttcccttgttcccggatggggcattcatcattgtgctgtttgcgttttgttttgtt c.*240
. . . . . . g.35567
ttgttttaacaaaattagctgaagaagttattctcaagaaaattggatgttttcattggc c.*300
. . . . . . g.35627
cttcttaaattgtggccagtgtcttttaatttcttcttcttttccttttggcaaagcaga c.*360
. . . . . . g.35687
tataaccctcagcatgctaggagagtgcacccgtacctatggaagtggtaaaatctggta c.*420
. . . . . . g.35747
tttactggcttacactcaaaacgaccacagtcctacctcagttcaaggtaaagccggatt c.*480
. . . . . . g.35807
tccgtggcgggggtcccacaggacctcctgtagtagcccctgcgctgtgtgtctggagcg c.*540
. . . . . . g.35867
cggtcctcggccttattgaaatggtccaagtagacagctgcttgttggattccagtgcag c.*600
. . . . . . g.35927
gtacctgcgatgtttacgtccacaccgagcccagtgtgggactgacatttctcaatggaa c.*660
. . . . . . g.35987
gtgaaatttgggattggactttgaagacggattactaaataataattattatatgtaact c.*720
. . . . . . g.36047
gaagcaacctacttttgaaaatcaactgtattgggtagtgggaggtgggagggaagggct c.*780
. . . . . . g.36107
ttgggaaggggatgaatatctctttttacctttaacagacttgtttaatcttctcgatgt c.*840
. . . . . . g.36167
agatgtttatgtaggtacttcacattgcaaacgccttttattctatttacaagctcagat c.*900
. . . . . . g.36227
gtctctgctctcctgaatcttgggcatgcctttctgtaaccaaaaatccctgtaggcgtg c.*960
. . . . . . g.36287
ctagcaattccagggtggtccgggtttggcagatttgatttttaaaaaacgtattatctt c.*1020
. . . . . . g.36347
taataaaatgttattatgtcaaccagtgaggctgccctgaacaaaaaaaacaaaaagaaa c.*1080
. . . . . . g.36407
aaaaaaaaaggaaagaaagaaactgataaaaagaggcattccagcccctatgttattgat c.*1140
. . . . . . g.36467
ggaaaaagaaaaagaagaaaagcaatctcgcagtacatgttacttgtcgaaaaaattccg c.*1200
. . . . . . g.36527
gacaagactacccttgttttatgttttcagtattctgaaaataccagtgtgtggcagttc c.*1260
. . . . . . g.36587
tcgcagatgttacctaaaactgctgaacttgaccggcagaatgttctgccgttttctgct c.*1320
. . . . . . g.36647
ccctcgacacttgattggagggctgtcgacctctcctcccgtgggggcttccccagtgcc c.*1380
. . . . . . g.36707
tatcttctctgatagtcatggagaggttacactaattcattggagatgtaagttgttggt c.*1440
. . . . . . g.36767
tttgttttgttttgtttttagaaaaatatatataaatatataatagatatctatcgctat c.*1500
. . . . . . g.36827
agaataatgcattaataaaatgaggcttttttagaggaagaccaaaaaattcaatgtctt c.*1560
. . . . . . g.36887
aaaaatatatttaatggcaatgcaaaagtcttcctgcttccgtgctgaactttagaacag c.*1620
. . . . . . g.36947
aggattgtattgcaagacaaagttgaatgtaaagtgatctccctgaacatttttaaggtt c.*1680
. . . . . . g.37007
ttacttttctgaaattatacatcacagcagtgcataggccatataatgttagctggaagg c.*1740
. . . . . . g.37067
tcaatttcagtgtatgatatactttattaagatgtataaaaatcctgaagtttttattta c.*1800
. . . . . . g.37127
gttttgggaataggcatcaatgggtggtatttgctttgtaactccccccaggtacgatag c.*1860
. . . . . . g.37187
ggactgaatatggaccctgctgaaagcagtgtattgacgcatatttaactcgccctctat c.*1920
. . . . . . g.37247
ccgtagagtagtcatgacactatacagatggttcgtgttcatactgcagcttaaaacaag c.*1980
. . . . . . g.37307
caaaatacacagatgataatatgctaaattttcctctatcctgtacatttcacaaaaagg c.*2040
. . . . . . g.37367
catatgcaatatttacatttttaatttagtttacagaatggaaccaaaatgtataaatgt c.*2100
. . . . . . g.37427
tatgtttgctaaaacttcacaatgtatattgggtctttgtacattttgcctgacttacct c.*2160
. . . . . . g.37487
taaatttaaaatattttttgctatataaactttaacagttattaaacagtgttttctttt c.*2220
. . . . . . g.37547
tgggtacgtattgtttctggatatcaagatgttaaatatatttcttgctattgtgatatg c.*2280
. . . . . . g.37607
acaagagacttaacttatcttgctctgtcttccactgtacacgctgtatataggggtcaa c.*2340
. . . . . . g.37667
tgtgatgctgctggagacgagaataaactggactagaatagtgcattgtatttagtctgt c.*2400
. . . . . . g.37727
attgatcatggatgccctccttaatagccatatgcaataaaataaagtacattatttatg c.*2460
g.37734
aaatgaa c.*2467
(downstream sequence)
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