(used for variant description)
(last modified December 10, 2016)
This file was created to facilitate the description of sequence variants on transcript NM_004655.3 in the AXIN2 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_012142.1, covering AXIN2 transcript NM_004655.3.
(upstream sequence)
. . . . g.5049
actggctccgcgagcctggcccgggggagtcggctggagccggctgcgc c.-241
. . . . . . g.5109
tttgataaggtcctggcaactcagtaacagcccgagagccgggaaataaaaataacccct c.-181
. . . . . . g.5169
cagagcgatggatttcggggccgcccggcggccgaggcgcccgccgaaggccctgctgta c.-121
. | 02 . . . . . g.7942
aaag | agaggaggttcagatgagcccctgctgacttgagagagacagagagaccacgccga c.-61
. . . . . . g.8002
ttgctgagaggaactggaagaagaaaaattcccagactcagtgggaagagctccctcacc c.-1
. . . . . . g.8062
ATGAGTAGCGCTATGTTGGTGACTTGCCTCCCGGACCCCAGCAGCAGCTTCCGTGAGGAT c.60
M S S A M L V T C L P D P S S S F R E D p.20
. . . . . . g.8122
GCCCCGCGGCCCCCAGTGCCAGGGGAAGAAGGGGAGACCCCACCGTGTCAGCCAGGGGTG c.120
A P R P P V P G E E G E T P P C Q P G V p.40
. . . . . . g.8182
GGCAAGGGCCAGGTCACCAAACCCATGCCTGTCTCTTCCAACACCAGGCGGAACGAAGAT c.180
G K G Q V T K P M P V S S N T R R N E D p.60
. . . . . . g.8242
GGGTTGGGGGAGCCGGAGGGGCGGGCATCTCCGGATTCCCCTCTGACCCGGTGGACCAAG c.240
G L G E P E G R A S P D S P L T R W T K p.80
. . . . . . g.8302
TCCTTACACTCCTTATTGGGCGATCAAGACGGTGCTTACCTGTTCCGAACTTTCCTGGAG c.300
S L H S L L G D Q D G A Y L F R T F L E p.100
. . . . . . g.8362
AGGGAGAAATGCGTGGATACCTTAGACTTCTGGTTTGCCTGCAATGGATTCAGGCAGATG c.360
R E K C V D T L D F W F A C N G F R Q M p.120
. . . . . . g.8422
AACCTGAAGGATACCAAAACTTTACGAGTAGCCAAAGCGATCTACAAAAGGTACATTGAG c.420
N L K D T K T L R V A K A I Y K R Y I E p.140
. . . . . . g.8482
AACAACAGCATTGTCTCCAAGCAGCTGAAGCCTGCCACCAAGACCTACATAAGAGATGGC c.480
N N S I V S K Q L K P A T K T Y I R D G p.160
. . . . . . g.8542
ATCAAGAAGCAGCAGATTGATTCCATCATGTTTGACCAGGCGCAGACCGAGATCCAGTCG c.540
I K K Q Q I D S I M F D Q A Q T E I Q S p.180
. . . . . . g.8602
GTGATGGAGGAAAATGCCTACCAGATGTTTTTGACTTCTGATATATACCTCGAATATGTG c.600
V M E E N A Y Q M F L T S D I Y L E Y V p.200
. . . . . . g.8662
AGGAGTGGGGGAGAAAACACAGCTTACATGAGTAATGGGGGACTCGGGAGCCTAAAGGTC c.660
R S G G E N T A Y M S N G G L G S L K V p.220
. . . . . . g.8722
GTGTGTGGCTATCTCCCCACCTTGAATGAAGAAGAGGAGTGGACTTGTGCCGACTTCAAG c.720
V C G Y L P T L N E E E E W T C A D F K p.240
. . . . . . g.8782
TGCAAACTTTCGCCAACCGTGGTTGGCTTGTCCAGCAAAACTCTGAGGGCCACGGCGAGT c.780
C K L S P T V V G L S S K T L R A T A S p.260
. . . | 03 . . . g.16987
GTGAGGTCCACGGAAACTGTTGACAGTGGATACAG | GTCCTTCAAGAGGAGCGATCCTGTT c.840
V R S T E T V D S G Y R | S F K R S D P V p.280
. . . . . . g.17047
AATCCTTATCACATAGGTTCTGGCTATGTCTTTGCACCAGCCACCAGCGCCAACGACAGT c.900
N P Y H I G S G Y V F A P A T S A N D S p.300
. . . . . | 04 . g.25069
GAGATATCCAGTGATGCGCTGACGGATGATTCCATGTCCATGACGGACAGCAGTGT | AGAT c.960
E I S S D A L T D D S M S M T D S S V | D p.320
. . . . . . g.25129
GGAATTCCTCCTTATCGTGTGGGCAGTAAGAAACAGCTCCAGAGAGAAATGCATCGCAGT c.1020
G I P P Y R V G S K K Q L Q R E M H R S p.340
. . . | 05 . . g.28300
GTGAAGGCCAATGGCCAAGTGTCTCTACCTCATTTCCCG | AGAACCCACCGCCTGCCCAAG c.1080
V K A N G Q V S L P H F P | R T H R L P K p.360
. . . . . . g.28360
GAGATGACCCCCGTGGAACCCGCCACCTTTGCAGCTGAGCTGATCTCGAGGCTGGAAAAG c.1140
E M T P V E P A T F A A E L I S R L E K p.380
. . . . . . g.28420
CTGAAGCTGGAGTTGGAGAGCCGCCACAGCCTGGAGGAGCGCCTGCAGCAGATCCGAGAG c.1200
L K L E L E S R H S L E E R L Q Q I R E p.400
| 06 . . . . . . g.28847
| GATGAAGAGAGAGAGGGCTCCGAGCTCACACTCAATTCGCGGGAGGGGGCGCCCACGCAG c.1260
| D E E R E G S E L T L N S R E G A P T Q p.420
. . . . . . g.28907
CACCCCCTCTCCCTACTGCCCTCCGGCAGCTACGAGGAAGACCCGCAGACGATACTGGAC c.1320
H P L S L L P S G S Y E E D P Q T I L D p.440
. . . . . . g.28967
GATCACCTGTCCAGGGTCCTCAAGACCCCTGGCTGCCAGTCTCCAGGCGTAGGCCGCTAT c.1380
D H L S R V L K T P G C Q S P G V G R Y p.460
. . . . . . g.29027
AGCCCCCGCTCCCGCTCCCCGGACCACCACCACCACCACCATTCGCAGTACCACTCCCTG c.1440
S P R S R S P D H H H H H H S Q Y H S L p.480
. . . . . . g.29087
CTCCCGCCCGGTGGCAAGCTGCCTCCCGCGGCCGCCTCGCCGGGCGCCTGCCCCCTCCTC c.1500
L P P G G K L P P A A A S P G A C P L L p.500
. . . . . . g.29147
GGGGGCAAAGGCTTTGTGACCAAGCAGACGACGAAGCATGTCCACCACCACTACATCCAC c.1560
G G K G F V T K Q T T K H V H H H Y I H p.520
. . . . . . g.29207
CACCATGCCGTCCCCAAGACCAAGGAGGAGATCGAGGCGGAGGCCACGCAGCGGGTGCAC c.1620
H H A V P K T K E E I E A E A T Q R V H p.540
. . . . . . g.29267
TGCTTCTGCCCTGGGGGCAGCGAGTATTACTGCTACTCGAAATGCAAAAGCCACTCCAAG c.1680
C F C P G G S E Y Y C Y S K C K S H S K p.560
. . . | 07 . . . g.29587
GCTCCGGAAACCATGCCCAGCGAGCAGTTTGG | CGGCAGCAGAGGCAGTACCTTGCCCAAA c.1740
A P E T M P S E Q F G | G S R G S T L P K p.580
. . . . . . g.29647
CGCAATGGGAAAGGCACGGAGCCGGGCCTGGCCCTGCCCGCCAGGGAAGGAGGGGCCCCC c.1800
R N G K G T E P G L A L P A R E G G A P p.600
. . . . . . g.29707
GGCGGAGCTGGGGCCCTGCAGCTTCCCCGGGAGGAAGGAGACAGGTCGCAGGATGTCTGG c.1860
G G A G A L Q L P R E E G D R S Q D V W p.620
. . . . | 08. . g.30082
CAGTGGATGCTGGAGAGTGAGCGGCAGAGCAAGCCCAAGCCCCATAG | TGCCCAAAGCACA c.1920
Q W M L E S E R Q S K P K P H S | A Q S T p.640
. . . . . . g.30142
AAAAAGGCCTACCCCTTGGAGTCTGCCCGCTCGTCTCCAGGCGAACGAGCCAGCCGGCAC c.1980
K K A Y P L E S A R S S P G E R A S R H p.660
. . . . . . g.30202
CATCTGTGGGGGGGCAACAGCGGGCACCCCCGCACCACCCCCCGTGCCCACCTGTTCACC c.2040
H L W G G N S G H P R T T P R A H L F T p.680
. . . . . . g.30262
CAGGACCCTGCGATGCCTCCCCTGACCCCACCCAACACGCTGGCTCAGCTGGAGGAGGCC c.2100
Q D P A M P P L T P P N T L A Q L E E A p.700
. . . . | 09 . . g.30920
TGTCGCAGGCTAGCTGAGGTGTCGAAGCCCCCAAAGCAGCG | GTGCTGTGTGGCCAGTCAG c.2160
C R R L A E V S K P P K Q R | C C V A S Q p.720
. . . . . . g.30980
CAGAGGGACAGGAATCATTCGGCCACTGTTCAGACGGGAGCCACACCCTTCTCCAATCCA c.2220
Q R D R N H S A T V Q T G A T P F S N P p.740
. | 10. . . . . g.32586
AGCCTGGCTCCAGAAGA | TCACAAAGAGCCAAAGAAACTGGCAGGTGTCCACGCGCTCCAG c.2280
S L A P E D | H K E P K K L A G V H A L Q p.760
. . . . . . g.32646
GCCAGTGAGTTGGTTGTCACTTACTTTTTCTGTGGGGAAGAAATTCCATACCGGAGGATG c.2340
A S E L V V T Y F F C G E E I P Y R R M p.780
. . . . . . g.32706
CTGAAGGCTCAGAGCTTGACCCTGGGCCACTTTAAAGAGCAGCTCAGCAAAAAGGGAAAT c.2400
L K A Q S L T L G H F K E Q L S K K G N p.800
| 11 . . . . . . g.36575
TATAG | GTATTACTTCAAAAAAGCAAGCGATGAGTTTGCCTGTGGAGCGGTGTTTGAGGAG c.2460
Y R | Y Y F K K A S D E F A C G A V F E E p.820
. . . . . . g.36635
ATCTGGGAGGATGAGACGGTGCTCCCGATGTATGAAGGCCGGATTCTGGGCAAAGTGGAG c.2520
I W E D E T V L P M Y E G R I L G K V E p.840
. g.36647
CGGATCGATTGA c.2532
R I D X p.843
. . . . . . g.36707
gccctggggtctggctttggtgaactgttggagcccgaagctcttgtgaactgtcttggc c.*60
. . . . . . g.36767
tgtgagcaactgcgacaaaacattttgaaggaaaattaaaccaatgaagaagacaaagtc c.*120
. . . . . . g.36827
taaggaagaatcggccagtgggccttcgggagggcggggggaggttgattttcatgattc c.*180
. . . . . . g.36887
atgagctgggtactgactgagataagaaaagcctgaactatttattaaaaacatgaccac c.*240
. . . . . . g.36947
tcttggctattgaagatgctgcctgtatttgagagactgccatacataatatatgacttc c.*300
. . . . . . g.37007
ctagggatctgaaatccataaactaagagaaactgtgtatagcttacctgaacaggaatc c.*360
. . . . . . g.37067
cttactgatatttatagaacagttgatttcccccatccccagtttatggatatgctgctt c.*420
. . . . . . g.37127
taaacttggaagggggagacaggaagttttaattgttctgactaaacttaggagttgagc c.*480
. . . . . . g.37187
taggagtgcgttcatggtttcttcactaacagaggaattatgctttgcactacgtccctc c.*540
. . . . . . g.37247
caagtgaagacagactgttttagacagactttttaaaatggtgccctaccattgacacat c.*600
. . . . . . g.37307
gcagaaattggtgcgttttgtttttttttttcctatgctgctctgttttgtcttaaaggt c.*660
. . . . . . g.37367
cttgagggttgaccatgttgcgtcatcatcaacattttgggggttgtgttggatgggatg c.*720
. . . . . . g.37427
atctgttgcagagggagaggcagggaaccctgctccttcgggccccaggttgatcctgtg c.*780
. . . . . . g.37487
actgaggctccccctcatgtagcctccccaggcccagggccctgaggcctgctagaatca c.*840
. . . . . . g.37547
ctgccgctgtgctttcgtggaaatgacagttccttgttttttttgtttctgtttttgttt c.*900
. . . . . . g.37607
tacattagtcattggaccacagccattcaggaactaccccctgccccacaaagaaatgaa c.*960
. . . . . . g.37667
cagttgtagggagacccagcagcacctttcctccacacaccttcattttgatgttcgggt c.*1020
. . . . . . g.37727
ttttgtgttaagttaatctgtacattctgtttgccattgttacttgtactatacatctgt c.*1080
. . . . . . g.37787
atatagtgtacggcaaaagagtattaatccactatctctagtgcttgactttaaatcagt c.*1140
. . . . . . g.37847
acagtacctgtacctgcacggtcacccgctccgtgtgtcgccctatattgagggctcaag c.*1200
. . . . . . g.37907
ctttcccttgttttttgaaaggggtttatgtataaatatattttatgcctttttattaca c.*1260
. . . . . . g.37967
agtcttgtactcaatgacttttgtcatgacattttgttctacttatactgtaaattatgc c.*1320
. . . . . . g.38027
attataaagagttcatttaaggaaaattacttggtacaataattattgtaattaagagat c.*1380
. . . g.38060
gtagcctttattaaaattttatatttttcaaaa c.*1413
(downstream sequence)
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