Canonical Allele Identifier: CA638371047

Gene: TXNRD2

Linked Data

• dbSNP Id: rs1443768343
• gnomAD v2: 22-19928885-A-G
• gnomAD v3: 22-19941362-A-G
• gnomAD v4: 22-19941362-A-G
• MyVariant Identifiers: chr22:g.19928885A>G (hg19) ; chr22:g.19941362A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19941362A>G , CM000684.2:g.19941362A>G	GRCh38
NC_000022.10:g.19928885A>G , CM000684.1:g.19928885A>G	GRCh37
NC_000022.9:g.18308885A>G	NCBI36
NG_011526.1:g.4623A>G
NG_011835.1:g.5475T>C , LRG_417:g.5475T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000400521.7:c.103+339T>C MANE Select	ENSP00000383365.1:n.103+339T>C
ENST00000334363.14:c.103+339T>C	ENSP00000334451.9:n.103+339T>C
ENST00000400519.6:c.103+339T>C	ENSP00000383363.1:n.103+339T>C
ENST00000400521.6:c.103+339T>C	ENSP00000383365.1:n.103+339T>C
ENST00000400525.6:c.103+339T>C	ENSP00000383369.3:n.103+339T>C
ENST00000474308.5:c.103+339T>C	ENSP00000485665.1:n.103+339T>C
ENST00000496729.2:n.108+339T>C
NM_001282512.1:c.103+339T>C	NP_001269441.1:n.103+339T>C
NM_006440.4:c.103+339T>C	NP_006431.2:n.103+339T>C
NM_001282512.2:c.103+339T>C	NP_001269441.1:n.103+339T>C
NM_001352300.1:c.103+339T>C	NP_001339229.1:n.103+339T>C
NR_147957.1:n.292+339T>C
NM_006440.5:c.103+339T>C MANE Select	NP_006431.2:n.103+339T>C
NM_001282512.3:c.103+339T>C	NP_001269441.1:n.103+339T>C
NM_001352300.2:c.103+339T>C	NP_001339229.1:n.103+339T>C
NR_147957.2:n.118+339T>C