Canonical Allele Identifier: CA2655330948

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.19941526T>G , CM000684.2:g.19941526T>G GRCh38
NC_000022.10:g.19929049T>G , CM000684.1:g.19929049T>G GRCh37
NC_000022.9:g.18309049T>G NCBI36
NG_011526.1:g.4787T>G
NG_011835.1:g.5311A>C , LRG_417:g.5311A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000400521.7:c.103+175A>C (TXNRD2) MANE Select ENSP00000383365.1:n.103+175A>C
ENST00000676678.1:c.-141T>G (COMT) ENSP00000503719.1:n.-141T>G
ENST00000334363.14:c.103+175A>C (TXNRD2) ENSP00000334451.9:n.103+175A>C
ENST00000400519.6:c.103+175A>C (TXNRD2) ENSP00000383363.1:n.103+175A>C
ENST00000400521.6:c.103+175A>C (TXNRD2) ENSP00000383365.1:n.103+175A>C
ENST00000400525.6:c.103+175A>C (TXNRD2) ENSP00000383369.3:n.103+175A>C
ENST00000474308.5:c.103+175A>C (TXNRD2) ENSP00000485665.1:n.103+175A>C
ENST00000496729.2:n.108+175A>C (TXNRD2)
NM_001282512.1:c.103+175A>C (TXNRD2) NP_001269441.1:n.103+175A>C
NM_006440.4:c.103+175A>C (TXNRD2) NP_006431.2:n.103+175A>C
NM_001282512.2:c.103+175A>C (TXNRD2) NP_001269441.1:n.103+175A>C
NM_001352300.1:c.103+175A>C (TXNRD2) NP_001339229.1:n.103+175A>C
NR_147957.1:n.292+175A>C (TXNRD2)
NM_006440.5:c.103+175A>C (TXNRD2) MANE Select NP_006431.2:n.103+175A>C
NM_001282512.3:c.103+175A>C (TXNRD2) NP_001269441.1:n.103+175A>C
NM_001352300.2:c.103+175A>C (TXNRD2) NP_001339229.1:n.103+175A>C
NR_147957.2:n.118+175A>C (TXNRD2)