(used for variant description)
(last modified December 7, 2019)
This file was created to facilitate the description of sequence variants on transcript NM_015959.3 in the TMX2 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_052993.1, covering TMX2 transcript NM_015959.3.
(upstream sequence)
. . . g.5036
gtacgtttgcgatatagcccaatagcagtcgttatg c.-61
. . . . . . g.5096
gtgggggaggcggggcgagacctacgacgccggcgagcagtggccgttacggccgaaaag c.-1
. . . . . . g.5156
ATGGCGGTCTTGGCACCTCTAATTGCTCTCGTGTATTCGGTGCCGCGACTTTCACGATGG c.60
M A V L A P L I A L V Y S V P R L S R W p.20
. . . . . . g.5216
CTCGCCCAACCTTACTACCTTCTGTCGGCCCTGCTCTCTGCTGCCTTCCTACTCGTGAGG c.120
L A Q P Y Y L L S A L L S A A F L L V R p.40
. . . . . . g.5276
AAACTGCCGCCGCTCTGCCACGGTCTGCCCACCCAACGCGAAGACGGTAACCCGTGTGAC c.180
K L P P L C H G L P T Q R E D G N P C D p.60
| 02 . . . . . g.30136
TTTGACTGG | AGAGAAGTGGAGATCCTGATGTTTCTCAGTGCCATTGTGATGATGAAGAAC c.240
F D W | R E V E I L M F L S A I V M M K N p.80
. | 03 . . . . . g.30440
CGCAGATCCA | TCACTGTGGAGCAACATATAGGCAACATTTTCATGTTTAGTAAAGTGGCC c.300
R R S I | T V E Q H I G N I F M F S K V A p.100
. . . . . . g.30500
AACACAATTCTTTTCTTCCGCTTGGATATTCGCATGGGCCTACTTTACATCACACTCTGC c.360
N T I L F F R L D I R M G L L Y I T L C p.120
| 04 . . . . . . g.30887
ATAG | TGTTCCTGATGACGTGCAAACCCCCCCTATATATGGGCCCTGAGTATATCAAGTAC c.420
I V | F L M T C K P P L Y M G P E Y I K Y p.140
. . | 05 . . . . g.31180
TTCAATGATAAAACCATTGAT | GAGGAACTAGAACGGGACAAGAGGGTCACTTGGATTGTG c.480
F N D K T I D | E E L E R D K R V T W I V p.160
. . . . . . g.31240
GAGTTCTTTGCCAATTGGTCTAATGACTGCCAATCATTTGCCCCTATCTATGCTGACCTC c.540
E F F A N W S N D C Q S F A P I Y A D L p.180
| 06 . . . . . g.31503
TCCCTTAA | ATACAACTGTACAGGGCTAAATTTTGGGAAGGTGGATGTTGGACGCTATACT c.600
S L K | Y N C T G L N F G K V D V G R Y T p.200
. | 07 . . . . . g.31654
GATGTTAGTACGCG | GTACAAAGTGAGCACATCACCCCTCACCAAGCAACTCCCTACCCTG c.660
D V S T R | Y K V S T S P L T K Q L P T L p.220
. . . . . . g.31714
ATCCTGTTCCAAGGTGGCAAGGAGGCAATGCGGCGGCCACAGATTGACAAGAAAGGACGG c.720
I L F Q G G K E A M R R P Q I D K K G R p.240
. . | 08 . . . . g.32612
GCTGTCTCATGGACCTTCTCTGAG | GAGAATGTGATCCGAGAATTTAACTTAAATGAGCTA c.780
A V S W T F S E | E N V I R E F N L N E L p.260
. . . . . . g.32672
TACCAGCGGGCCAAGAAACTATCAAAGGCTGGAGACAATATCCCTGAGGAGCAGCCTGTG c.840
Y Q R A K K L S K A G D N I P E E Q P V p.280
. . . . . g.32723
GCTTCAACCCCCACCACAGTGTCAGATGGGGAAAACAAGAAGGATAAATAA c.891
A S T P T T V S D G E N K K D K X p.296
. . . . . . g.32783
gatcctcactttggcagtgcttcctctcctgtcaattccaggctctttccataaccacaa c.*60
. . . . . . g.32843
gcctgaggctgcagccttttatttatgttttccctttggctgtgactgggtggggcagca c.*120
. . . . . . g.32903
tgcagcttctgattttaaagaggcatctagggaattgtcaggcaccctacaggaaggcct c.*180
. . . . . . g.32963
gccatgctgtggccaactgtttcactggagcaagaaagagatctcataggacggaggggg c.*240
. . . . . . g.33023
aaatggtttccctccaagcttgggtcagtgtgttaactgcttatcagctattcagacatc c.*300
. . . . . . g.33083
tccatggtttctccatgaaactctgtggtttcatcattccttcttagttgacctgcacag c.*360
. . . . . . g.33143
cttggttagacctagatttaaccctaaggtaagatgctggggtatagaacgctaagaatt c.*420
. . . . . . g.33203
ttcccccaaggactcttgcttccttaagcccttctggcttcgtttatggtcttcattaaa c.*480
. . . . . . g.33263
agtataagcctaactttgtcgctagtcctaaggagaaacctttaaccacaaagtttttat c.*540
. . . . . . g.33323
cattgaagacaatattgaacaaccccctattttgtggggattgagaaggggtgaatagag c.*600
. . . . . . g.33383
gcttgagactttcctttgtgtggtaggacttggaggagaaatcccctggactttcactaa c.*660
. . . . . . g.33443
ccctctgacatactccccacacccagttgatggctttccgtaataaaaagattgggattt c.*720
g.33451
ccttttga c.*728
(downstream sequence)
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