Canonical Allele Identifier: CA10103777

Gene: TXNRD2

Linked Data

• dbSNP Id: rs752572812
• ExAC: 22:19868155 T / C
• gnomAD v2: 22-19868155-T-C
• gnomAD v4: 22-19880632-T-C
• MyVariant Identifiers: chr22:g.19868155T>C (hg19) ; chr22:g.19880632T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19880632T>C , CM000684.2:g.19880632T>C	GRCh38
NC_000022.10:g.19868155T>C , CM000684.1:g.19868155T>C	GRCh37
NC_000022.9:g.18248155T>C	NCBI36
NG_011835.1:g.66205A>G , LRG_417:g.66205A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000400521.7:c.1172A>G MANE Select	ENSP00000383365.1:p.Asp391Gly
ENST00000400518.5:c.1082A>G	ENSP00000383362.1:p.Asp361Gly
ENST00000400519.6:c.1169A>G	ENSP00000383363.1:p.Asp390Gly
ENST00000400521.6:c.1172A>G	ENSP00000383365.1:p.Asp391Gly
ENST00000400525.6:c.1103A>G	ENSP00000383369.3:p.Asp368Gly
ENST00000462330.5:c.95A>G	ENSP00000485603.2:p.Asp32Gly
ENST00000462843.2:c.122A>G	ENSP00000485466.2:p.Asp41Gly
ENST00000474308.5:c.1115A>G	ENSP00000485665.1:p.Asp372Gly
ENST00000485358.5:c.140A>G	ENSP00000485499.2:p.Asp47Gly
ENST00000487165.5:n.1266A>G
ENST00000494454.5:n.1246A>G
ENST00000495655.2:n.716A>G
ENST00000542719.6:c.884A>G	ENSP00000485128.2:p.Asp295Gly
ENST00000634471.1:n.244-361A>G
ENST00000634537.1:c.401A>G	ENSP00000489208.1:p.Asp134Gly
NM_006440.4:c.1172A>G	NP_006431.2:p.Asp391Gly
NM_001352300.1:c.1169A>G	NP_001339229.1:p.Asp390Gly
NM_001352301.1:c.1082A>G	NP_001339230.1:p.Asp361Gly
NM_001352302.1:c.884A>G	NP_001339231.1:p.Asp295Gly
NR_147957.1:n.1304A>G
NM_006440.5:c.1172A>G MANE Select	NP_006431.2:p.Asp391Gly
NM_001352300.2:c.1169A>G	NP_001339229.1:p.Asp390Gly
NR_147957.2:n.1130A>G
NM_001352301.2:c.1082A>G	NP_001339230.1:p.Asp361Gly
NM_001352302.2:c.884A>G	NP_001339231.1:p.Asp295Gly