Canonical Allele Identifier: CA10104256

Gene: TXNRD2

Linked Data

• dbSNP Id: rs771851819
• ExAC: 22:19906402 G / C
• gnomAD v2: 22-19906402-G-C
• MyVariant Identifiers: chr22:g.19906402G>C (hg19) ; chr22:g.19918879G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19918879G>C , CM000684.2:g.19918879G>C	GRCh38
NC_000022.10:g.19906402G>C , CM000684.1:g.19906402G>C	GRCh37
NC_000022.9:g.18286402G>C	NCBI36
NG_011835.1:g.27958C>G , LRG_417:g.27958C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000400521.7:c.355C>G MANE Select	ENSP00000383365.1:p.Gln119Glu
ENST00000334363.14:c.355C>G	ENSP00000334451.9:p.Gln119Glu
ENST00000400518.5:c.265C>G	ENSP00000383362.1:p.Gln89Glu
ENST00000400519.6:c.352C>G	ENSP00000383363.1:p.Gln118Glu
ENST00000400521.6:c.355C>G	ENSP00000383365.1:p.Gln119Glu
ENST00000400525.6:c.286C>G	ENSP00000383369.3:p.Gln96Glu
ENST00000474308.5:c.298C>G	ENSP00000485665.1:p.Gln100Glu
ENST00000491939.6:c.259C>G	ENSP00000485543.1:p.Gln87Glu
ENST00000496729.2:n.360C>G
ENST00000542719.6:c.67C>G	ENSP00000485128.2:p.Gln23Glu
NM_001282512.1:c.355C>G	NP_001269441.1:p.Gln119Glu
NM_006440.4:c.355C>G	NP_006431.2:p.Gln119Glu
NM_001282512.2:c.355C>G	NP_001269441.1:p.Gln119Glu
NM_001352300.1:c.352C>G	NP_001339229.1:p.Gln118Glu
NM_001352301.1:c.265C>G	NP_001339230.1:p.Gln89Glu
NM_001352302.1:c.67C>G	NP_001339231.1:p.Gln23Glu
NM_001352303.1:c.259C>G	NP_001339232.1:p.Gln87Glu
NR_147957.1:n.487C>G
NM_006440.5:c.355C>G MANE Select	NP_006431.2:p.Gln119Glu
NM_001282512.3:c.355C>G	NP_001269441.1:p.Gln119Glu
NM_001352300.2:c.352C>G	NP_001339229.1:p.Gln118Glu
NR_147957.2:n.313C>G
NM_001352301.2:c.265C>G	NP_001339230.1:p.Gln89Glu
NM_001352302.2:c.67C>G	NP_001339231.1:p.Gln23Glu
NM_001352303.2:c.259C>G	NP_001339232.1:p.Gln87Glu