Canonical Allele Identifier: CA2988030564

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.19941373T>A , CM000684.2:g.19941373T>A GRCh38
NC_000022.10:g.19928896T>A , CM000684.1:g.19928896T>A GRCh37
NC_000022.9:g.18308896T>A NCBI36
NG_011526.1:g.4634T>A
NG_011835.1:g.5464A>T , LRG_417:g.5464A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000400521.7:c.103+328A>T (TXNRD2) MANE Select ENSP00000383365.1:n.103+328A>T
ENST00000676678.1:c.-294T>A (COMT) ENSP00000503719.1:n.-294T>A
ENST00000334363.14:c.103+328A>T (TXNRD2) ENSP00000334451.9:n.103+328A>T
ENST00000400519.6:c.103+328A>T (TXNRD2) ENSP00000383363.1:n.103+328A>T
ENST00000400521.6:c.103+328A>T (TXNRD2) ENSP00000383365.1:n.103+328A>T
ENST00000400525.6:c.103+328A>T (TXNRD2) ENSP00000383369.3:n.103+328A>T
ENST00000474308.5:c.103+328A>T (TXNRD2) ENSP00000485665.1:n.103+328A>T
ENST00000496729.2:n.108+328A>T (TXNRD2)
NM_001282512.1:c.103+328A>T (TXNRD2) NP_001269441.1:n.103+328A>T
NM_006440.4:c.103+328A>T (TXNRD2) NP_006431.2:n.103+328A>T
NM_001282512.2:c.103+328A>T (TXNRD2) NP_001269441.1:n.103+328A>T
NM_001352300.1:c.103+328A>T (TXNRD2) NP_001339229.1:n.103+328A>T
NR_147957.1:n.292+328A>T (TXNRD2)
NM_006440.5:c.103+328A>T (TXNRD2) MANE Select NP_006431.2:n.103+328A>T
NM_001282512.3:c.103+328A>T (TXNRD2) NP_001269441.1:n.103+328A>T
NM_001352300.2:c.103+328A>T (TXNRD2) NP_001339229.1:n.103+328A>T
NR_147957.2:n.118+328A>T (TXNRD2)