Canonical Allele Identifier: CA2655330770

Gene: TXNRD2 COMT

Linked Data

• gnomAD v4: 22-19941473-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19941473G>T , CM000684.2:g.19941473G>T	GRCh38
NC_000022.10:g.19928996G>T , CM000684.1:g.19928996G>T	GRCh37
NC_000022.9:g.18308996G>T	NCBI36
NG_011526.1:g.4734G>T
NG_011835.1:g.5364C>A , LRG_417:g.5364C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000400521.7:c.103+228C>A (TXNRD2) MANE Select	ENSP00000383365.1:n.103+228C>A
ENST00000676678.1:c.-194G>T (COMT)	ENSP00000503719.1:n.-194G>T
ENST00000334363.14:c.103+228C>A (TXNRD2)	ENSP00000334451.9:n.103+228C>A
ENST00000400519.6:c.103+228C>A (TXNRD2)	ENSP00000383363.1:n.103+228C>A
ENST00000400521.6:c.103+228C>A (TXNRD2)	ENSP00000383365.1:n.103+228C>A
ENST00000400525.6:c.103+228C>A (TXNRD2)	ENSP00000383369.3:n.103+228C>A
ENST00000474308.5:c.103+228C>A (TXNRD2)	ENSP00000485665.1:n.103+228C>A
ENST00000496729.2:n.108+228C>A (TXNRD2)
NM_001282512.1:c.103+228C>A (TXNRD2)	NP_001269441.1:n.103+228C>A
NM_006440.4:c.103+228C>A (TXNRD2)	NP_006431.2:n.103+228C>A
NM_001282512.2:c.103+228C>A (TXNRD2)	NP_001269441.1:n.103+228C>A
NM_001352300.1:c.103+228C>A (TXNRD2)	NP_001339229.1:n.103+228C>A
NR_147957.1:n.292+228C>A (TXNRD2)
NM_006440.5:c.103+228C>A (TXNRD2) MANE Select	NP_006431.2:n.103+228C>A
NM_001282512.3:c.103+228C>A (TXNRD2)	NP_001269441.1:n.103+228C>A
NM_001352300.2:c.103+228C>A (TXNRD2)	NP_001339229.1:n.103+228C>A
NR_147957.2:n.118+228C>A (TXNRD2)