Canonical Allele Identifier: CA10576191

Linked Data

ClinVar Variation Id: 225950
dbSNP Id: rs13306278

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.19941504C>T , CM000684.2:g.19941504C>T GRCh38
NC_000022.10:g.19929027C>T , CM000684.1:g.19929027C>T GRCh37
NC_000022.9:g.18309027C>T NCBI36
NG_011526.1:g.4765C>T
NG_011835.1:g.5333G>A , LRG_417:g.5333G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000400521.7:c.103+197G>A (TXNRD2) MANE Select ENSP00000383365.1:n.103+197G>A
ENST00000676678.1:c.-163C>T (COMT) ENSP00000503719.1:n.-163C>T
ENST00000334363.14:c.103+197G>A (TXNRD2) ENSP00000334451.9:n.103+197G>A
ENST00000400519.6:n.103+197G>A (TXNRD2) ENSP00000383363.1:n.103+197G>A
ENST00000400521.6:c.103+197G>A (TXNRD2) ENSP00000383365.1:n.103+197G>A
ENST00000400525.6:c.103+197G>A (TXNRD2) ENSP00000383369.3:n.103+197G>A
ENST00000474308.5:c.103+197G>A (TXNRD2) ENSP00000485665.1:n.103+197G>A
ENST00000496729.2:n.108+197G>A (TXNRD2)
NM_001282512.1:c.103+197G>A (TXNRD2) NP_001269441.1:n.103+197G>A
NM_006440.4:c.103+197G>A (TXNRD2) NP_006431.2:n.103+197G>A
NM_001282512.2:c.103+197G>A (TXNRD2) NP_001269441.1:n.103+197G>A
NM_001352300.1:c.103+197G>A (TXNRD2) NP_001339229.1:n.103+197G>A
NR_147957.1:n.292+197G>A (TXNRD2)
NM_006440.5:c.103+197G>A (TXNRD2) MANE Select NP_006431.2:n.103+197G>A
NM_001282512.3:c.103+197G>A (TXNRD2) NP_001269441.1:n.103+197G>A
NM_001352300.2:c.103+197G>A (TXNRD2) NP_001339229.1:n.103+197G>A
NR_147957.2:n.118+197G>A (TXNRD2)