(used for variant description)
(last modified January 13, 2019)
This file was created to facilitate the description of sequence variants on transcript NM_014010.4 in the ASTN2 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_021409.1, covering ASTN2 transcript NM_014010.4.
(upstream sequence)
. . . . g.5041
ggttcgcttcggcgtccgccgtctccgcagctgcctcctct c.-61
. . . . . . g.5101
tcctccttcgccaccgccgccaccgccgccgccgcccgcagcaccgcagcccctcccgcc c.-1
. . . . . . g.5161
ATGGCCGCCGCCGGCGCCCGGCTCAGCCCCGGCCCCGGCTCGGGGCTCCGGGGGCGGCCG c.60
M A A A G A R L S P G P G S G L R G R P p.20
. . . . . . g.5221
AGGCTCTGCTTCCACCCGGGGCCGCCGCCACTGCTGCCGCTGCTGCTGCTGTTCCTGCTC c.120
R L C F H P G P P P L L P L L L L F L L p.40
. . . . . . g.5281
CTGCTGCCGCCGCCGCCGCTGCTGGCCGGCGCCACCGCCGCTGCCTCGCGGGAGCCCGAC c.180
L L P P P P L L A G A T A A A S R E P D p.60
. . . . . . g.5341
AGCCCGTGCCGGCTGAAGACCGTCACGGTGTCCACACTGCCCGCCCTGCGGGAGAGCGAC c.240
S P C R L K T V T V S T L P A L R E S D p.80
. . . . . . g.5401
ATCGGCTGGAGCGGCGCCCGCGCCGGGGCCGGGGCTGGGACCGGGGCCGGAGCCGCCGCC c.300
I G W S G A R A G A G A G T G A G A A A p.100
. . . . . . g.5461
GCCGCCGCGTCCCCGGGCTCTCCTGGCTCTGCCGGCACCGCCGCCGAGTCGCGCCTCCTG c.360
A A A S P G S P G S A G T A A E S R L L p.120
. . . . . . g.5521
CTCTTTGTGCGTAACGAGCTGCCGGGGCGCATCGCGGTGCAGGACGACCTGGACAACACC c.420
L F V R N E L P G R I A V Q D D L D N T p.140
. . | 02 . . . . g.128563
GAGCTGCCCTTCTTCACCCTGG | AGATGTCTGGCACAGCGGCGGACATCTCGCTGGTGCAC c.480
E L P F F T L E | M S G T A A D I S L V H p.160
. . . . . . g.128623
TGGAGACAGCAGTGGCTGGAGAATGGCACCTTGTACTTCCACGTCTCCATGAGCAGCTCC c.540
W R Q Q W L E N G T L Y F H V S M S S S p.180
. . . . . . g.128683
GGGCAGCTGGCCCAAGCCACCGCCCCCACTCTCCAGGAGCCCTCGGAGATTGTTGAGGAG c.600
G Q L A Q A T A P T L Q E P S E I V E E p.200
. . . | 03 . . . g.205326
CAGATGCACATCCTCCACATTTCTGTGATG | GGTGGCCTCATCGCGCTGCTGCTGCTGCTG c.660
Q M H I L H I S V M | G G L I A L L L L L p.220
. . . . . . g.205386
CTGGTGTTCACCGTGGCGCTGTACGCCCAGCGACGTTGGCAGAAGCGTCGCCGCATCCCC c.720
L V F T V A L Y A Q R R W Q K R R R I P p.240
. . . . . . g.205446
CAGAAGAGCGCAAGCACAGAAGCCACTCATGAGATCCACTACATCCCATCTGTGCTGCTG c.780
Q K S A S T E A T H E I H Y I P S V L L p.260
. . . . . . g.205506
GGTCCCCAGGCGCGGGAGAGCTTCCGTTCATCCCGGCTGCAAACCCACAATTCCGTCATT c.840
G P Q A R E S F R S S R L Q T H N S V I p.280
. . . . . . g.205566
GGCGTGCCCATCCGGGAGACTCCCATCCTGGATGACTATGACTGTGAGGAGGATGAGGAG c.900
G V P I R E T P I L D D Y D C E E D E E p.300
. . . . . . g.205626
CCACCTAGGCGGGCCAACCATGTCTCCCGCGAGGACGAGTTTGGCAGCCAGGTGACCCAC c.960
P P R R A N H V S R E D E F G S Q V T H p.320
. . . . . | 04 . g.323892
ACTCTGGACAGTCTGGGACATCCAGGGGAAGAGAAGGTGGACTTTGAGAAGAAAG | GAGGA c.1020
T L D S L G H P G E E K V D F E K K G | G p.340
. . . . . . g.323952
ATCAGCTTTGGGAGAGCCAAGGGGACGTCGGGCTCAGAGGCAGACGATGAAACTCAGCTG c.1080
I S F G R A K G T S G S E A D D E T Q L p.360
. . . . | 05 . . g.380090
ACATTCTACACGGAGCAGTACCGCAGTCGCCGCCGCAGCAAAG | GTTTGCTGAAAAGCCCA c.1140
T F Y T E Q Y R S R R R S K G | L L K S P p.380
. . . . . . g.380150
GTGAACAAGACAGCCCTGACACTGATTGCTGTGAGTTCCTGCATCCTGGCCATGGTGTGT c.1200
V N K T A L T L I A V S S C I L A M V C p.400
. . . . . . g.380210
GGCAGCCAGATGTCTTGTCCACTCACTGTGAAGGTGACTCTGCATGTGCCCGAGCACTTC c.1260
G S Q M S C P L T V K V T L H V P E H F p.420
. | 06 . . . . . g.411829
ATAGCAGATG | GAAGCAGCTTCGTGGTGAGTGAAGGGAGCTACCTGGACATCTCCGACTGG c.1320
I A D G | S S F V V S E G S Y L D I S D W p.440
. . . . . . g.411889
TTAAACCCGGCCAAGCTTTCCCTGTATTACCAGATCAATGCCACCTCCCCATGGGTGAGG c.1380
L N P A K L S L Y Y Q I N A T S P W V R p.460
. . . . . | 07 g.443255
GACCTCTGTGGACAAAGGACGACAGATGCCTGTGAGCAGCTCTGCGACCCAGAAACCG | GA c.1440
D L C G Q R T T D A C E Q L C D P E T G | p.480
. . . . . . g.443315
GAGTGCAGCTGTCATGAAGGCTATGCCCCTGACCCTGTTCACAGACACCTGTGTGTGCGC c.1500
E C S C H E G Y A P D P V H R H L C V R p.500
. . | 08 . . . . g.443887
AGTGACTGGGGACAGAGTGAAGG | ACCTTGGCCCTACACGACACTTGAGAGGGGCTATGAT c.1560
S D W G Q S E G | P W P Y T T L E R G Y D p.520
. . . | 09 . . g.444715
CTGGTGACAGGGGAGCAAGCCCCTGAAAAGATTCTCAG | GTCTACTTTCAGCTTGGGCCAA c.1620
L V T G E Q A P E K I L R | S T F S L G Q p.540
. . . . . . g.444775
GGCCTCTGGCTTCCTGTCAGCAAAAGCTTTGTGGTTCCGCCTGTGGAGCTGTCCATCAAC c.1680
G L W L P V S K S F V V P P V E L S I N p.560
. . . . . | 10 . g.556309
CCCCTGGCCAGCTGCAAGACCGATGTGCTCGTCACGGAAGACCCTGCAGATGTCAG | GGAA c.1740
P L A S C K T D V L V T E D P A D V R | E p.580
. . . . . . g.556369
GAAGCGATGCTGTCCACATACTTTGAAACCATCAATGACCTGCTGTCTTCCTTCGGGCCA c.1800
E A M L S T Y F E T I N D L L S S F G P p.600
. . . . . . g.556429
GTTCGTGACTGCTCTCGGAACAATGGGGGCTGCACTCGCAACTTCAAGTGTGTGTCTGAC c.1860
V R D C S R N N G G C T R N F K C V S D p.620
. . | 11. . . . g.599288
CGGCAGGTGGATTCCTCGGGATGTGTG | TGCCCTGAGGAGCTGAAACCCATGAAGGATGGC c.1920
R Q V D S S G C V | C P E E L K P M K D G p.640
. . . . . . g.599348
TCTGGCTGCTACGACCACTCCAAAGGCATTGACTGCTCTGATGGCTTTAATGGCGGCTGT c.1980
S G C Y D H S K G I D C S D G F N G G C p.660
. . . . . . g.599408
GAGCAGCTGTGCCTGCAGCAGACGCTGCCCCTGCCCTACGATGCCACTTCGAGCACCATC c.2040
E Q L C L Q Q T L P L P Y D A T S S T I p.680
. | 12 . . . . . g.614264
TTCATGTTCTGCGG | TTGCGTGGAGGAGTACAAACTGGCTCCTGATGGAAAATCCTGCTTA c.2100
F M F C G | C V E E Y K L A P D G K S C L p.700
. . . . . . g.614324
ATGCTCTCAGATGTCTGCGAGGGCCCCAAGTGCCTCAAACCTGACTCCAAATTCAATGAT c.2160
M L S D V C E G P K C L K P D S K F N D p.720
. . . . . . g.614384
ACCCTCTTTGGAGAGATGCTACATGGTTACAACAACCGGACCCAGCATGTGAACCAAGGC c.2220
T L F G E M L H G Y N N R T Q H V N Q G p.740
. . | 13 . . . . g.686552
CAAGTCTTCCAGATGACCTTTAG | GGAGAACAACTTCATCAAGGACTTTCCCCAGCTGGCC c.2280
Q V F Q M T F R | E N N F I K D F P Q L A p.760
. . . . . . g.686612
GATGGGCTGTTGGTGATCCCGCTGCCGGTGGAGGAGCAGTGCCGGGGGGTCCTCTCCGAG c.2340
D G L L V I P L P V E E Q C R G V L S E p.780
. . | 14 . . . g.690974
CCCCTTCCAGACCTCCAACTGCTCACTG | GAGATATCAGGTATGATGAGGCCATGGGTTAC c.2400
P L P D L Q L L T G | D I R Y D E A M G Y p.800
. . . . . . g.691034
CCCATGGTGCAGCAGTGGCGGGTCCGGAGCAACCTCTACCGTGTGAAGCTCAGCACCATC c.2460
P M V Q Q W R V R S N L Y R V K L S T I p.820
. | 15 . . . . . g.694135
ACCCTCGCAGCAG | GCTTCACTAATGTTCTCAAGATCCTGACCAAGGAGAGCAGTCGGGAG c.2520
T L A A G | F T N V L K I L T K E S S R E p.840
. . . . . . g.694195
GAGCTGCTGTCCTTCATCCAGCACTATGGCTCCCACTACATCGCAGAGGCCCTCTATGGC c.2580
E L L S F I Q H Y G S H Y I A E A L Y G p.860
. . . . . . g.694255
TCAGAGCTCACCTGCATCATCCACTTTCCCAGCAAGAAGGTCCAGCAGCAGCTGTGGCTC c.2640
S E L T C I I H F P S K K V Q Q Q L W L p.880
. | 16 . . . . . g.768292
CAGTATCAGAAAG | AGACCACAGAGCTGGGCAGCAAGAAGGAGCTCAAGTCCATGCCCTTC c.2700
Q Y Q K E | T T E L G S K K E L K S M P F p.900
. . . . . . g.768352
ATCACCTACCTCTCAGGTTTGCTGACAGCCCAGATGCTGTCAGATGACCAGCTCATTTCA c.2760
I T Y L S G L L T A Q M L S D D Q L I S p.920
. . . . . . g.768412
GGTGTGGAGATTCGCTGTGAGGAGAAGGGGCGCTGTCCATCTACCTGTCACCTTTGCCGC c.2820
G V E I R C E E K G R C P S T C H L C R p.940
. . . . . . g.768472
CGGCCAGGCAAGGAGCAGCTGAGCCCCACACCAGTGCTGCTGGAAATCAACCGTGTGGTG c.2880
R P G K E Q L S P T P V L L E I N R V V p.960
. . . | 17 . . g.799616
CCACTTTATACCCTCATCCAAGACAATGGCACAAAGGAG | GCCTTCAAGAGTGCACTGATG c.2940
P L Y T L I Q D N G T K E | A F K S A L M p.980
. . . . . . g.799676
AGTTCCTACTGGTGCTCAGGGAAAGGGGATGTGATCGATGACTGGTGCAGGTGTGACCTC c.3000
S S Y W C S G K G D V I D D W C R C D L p.1000
. . . . . | 18 . g.801573
AGCGCCTTTGATGCCAATGGGCTCCCCAACTGCAGCCCCCTTCTGCAGCCGGT | GCTGCGG c.3060
S A F D A N G L P N C S P L L Q P V | L R p.1020
. . . . . . g.801633
CTGTCCCCAACAGTGGAGCCCTCCAGTACTGTGGTCTCCTTGGAGTGGGTGGATGTTCAG c.3120
L S P T V E P S S T V V S L E W V D V Q p.1040
. . . . . . g.801693
CCAGCTATTGGGACCAAGGTCTCCGACTATATTCTGCAGCATAAGAAAGTGGATGAATAC c.3180
P A I G T K V S D Y I L Q H K K V D E Y p.1060
. . | 19 . . . . g.932576
ACAGACACTGACCTGTACACAG | GAGAATTCCTGAGTTTTGCTGATGACTTACTCTCTGGC c.3240
T D T D L Y T G | E F L S F A D D L L S G p.1080
. . . . . . g.932636
CTGGGCACATCTTGTGTAGCAGCTGGTCGAAGCCATGGAGAGGTCCCTGAAGTCAGTATC c.3300
L G T S C V A A G R S H G E V P E V S I p.1100
. . . . | 20 . . g.977501
TACTCAGTCATCTTCAAGTGTCTGGAGCCCGACGGTCTCTACAA | GTTCACTCTGTATGCT c.3360
Y S V I F K C L E P D G L Y K | F T L Y A p.1120
. . . . . . g.977561
GTGGATACACGAGGGAGGCACTCAGAGCTAAGCACGGTGACCCTGAGGACGGCCTGTCCA c.3420
V D T R G R H S E L S T V T L R T A C P p.1140
. . | 21 . . . . g.979281
CTGGTAGATGACAACAAGGCAGAAG | AAATAGCTGACAAGATCTACAATCTGTACAATGGG c.3480
L V D D N K A E E | I A D K I Y N L Y N G p.1160
. . . . . . g.979341
TACACAAGTGGAAAGGAGCAGCAGATGGCCTACAACACACTGATGGAGGTCTCAGCCTCG c.3540
Y T S G K E Q Q M A Y N T L M E V S A S p.1180
. . . . . . g.979401
ATGCTGTTCCGAGTCCAGCACCACTACAACTCTCACTATGAAAAGTTTGGCGACTTCGTC c.3600
M L F R V Q H H Y N S H Y E K F G D F V p.1200
. . | 22 . . . g.993981
TGGAGAAGTGAGGATGAGCTGGGGCCCAG | GAAGGCCCACCTGATTCTACGGCGACTGGAG c.3660
W R S E D E L G P R | K A H L I L R R L E p.1220
. . . . . . g.994041
AGGGTGAGTAGCCACTGCTCCAGCCTCCTGCGGAGTGCCTACATCCAGAGCCGCGTGGAA c.3720
R V S S H C S S L L R S A Y I Q S R V E p.1240
. . . . . . g.994101
ACAGTGCCCTATCTTTTCTGCCGCAGCGAGGAGGTCCGGCCTGCAGGCATGGTGTGGTAT c.3780
T V P Y L F C R S E E V R P A G M V W Y p.1260
. . . . . . g.994161
AGCATCCTCAAGGACACCAAAATCACGTGTGAGGAGAAGATGGTGTCAATGGCCCGAAAC c.3840
S I L K D T K I T C E E K M V S M A R N p.1280
. . g.994188
ACGTACGGGGAGTCCAAGGGCCGGTGA c.3867
T Y G E S K G R X p.1288
. . . . . . g.994248
gggagggtattgccctccgtgagcacagagactctccatgggagggggagcagtattctc c.*60
. . . . . . g.994308
ctggatcctggggcctgggtgggctgggggacagctgaggatgggcctagcagatgaagc c.*120
. . . . . . g.994368
ttgccagcaaggccaaagcaaacggtttctcctgtggatagtggacagagacctttgtaa c.*180
. . . . . . g.994428
ccaatggaattattcatttttctctatcttttattttttcaaagatattatttgactcta c.*240
. . . . . . g.994488
tcaaaagtctctcctttttaaaccttttcttatggatggctgtcaatcccgaggcagaag c.*300
. . . . . . g.994548
ttttcaggtggagaccaagcggcctttgctcttcttccttcttcctgccacactctgctt c.*360
. . . . . . g.994608
tcttcctgccatggacccctggaggagacctatggagggacagttttgacctgaccccta c.*420
. . . . . . g.994668
gaggagacagttttgacctcttcagcaccaggaaggaagctctgaggatggttgcagtga c.*480
. . . . . . g.994728
ggaagcatgggtctttaaggacttctctctcttttttgctggacattattgagtttgtgg c.*540
. . . . . . g.994788
gaccctgcctcttcctgctacctgtgggtctgcccagagtccctgcaggcctgtccatgc c.*600
. . g.994814
attaaaaattcctattgtctctcttt c.*626
(downstream sequence)
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