Canonical Allele Identifier: CA410681931

Gene: TXNRD2

Linked Data

• dbSNP Id: rs377598025
• gnomAD v2: 22-19868170-G-A
• gnomAD v4: 22-19880647-G-A
• MyVariant Identifiers: chr22:g.19868170G>A (hg19) ; chr22:g.19880647G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19880647G>A , CM000684.2:g.19880647G>A	GRCh38
NC_000022.10:g.19868170G>A , CM000684.1:g.19868170G>A	GRCh37
NC_000022.9:g.18248170G>A	NCBI36
NG_011835.1:g.66190C>T , LRG_417:g.66190C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000400521.7:c.1157C>T MANE Select	ENSP00000383365.1:p.Ser386Phe
ENST00000400518.5:c.1067C>T	ENSP00000383362.1:p.Ser356Phe
ENST00000400519.6:c.1154C>T	ENSP00000383363.1:p.Ser385Phe
ENST00000400521.6:c.1157C>T	ENSP00000383365.1:p.Ser386Phe
ENST00000400525.6:c.1088C>T	ENSP00000383369.3:p.Ser363Phe
ENST00000462330.5:c.80C>T	ENSP00000485603.2:p.Ser27Phe
ENST00000462843.2:c.107C>T	ENSP00000485466.2:p.Ser36Phe
ENST00000474308.5:c.1100C>T	ENSP00000485665.1:p.Ser367Phe
ENST00000485358.5:c.125C>T	ENSP00000485499.2:p.Ser42Phe
ENST00000487165.5:n.1251C>T
ENST00000494454.5:n.1231C>T
ENST00000495655.2:n.701C>T
ENST00000542719.6:c.869C>T	ENSP00000485128.2:p.Ser290Phe
ENST00000634471.1:n.244-376C>T
ENST00000634537.1:c.386C>T	ENSP00000489208.1:p.Ser129Phe
NM_006440.4:c.1157C>T	NP_006431.2:p.Ser386Phe
NM_001352300.1:c.1154C>T	NP_001339229.1:p.Ser385Phe
NM_001352301.1:c.1067C>T	NP_001339230.1:p.Ser356Phe
NM_001352302.1:c.869C>T	NP_001339231.1:p.Ser290Phe
NR_147957.1:n.1289C>T
NM_006440.5:c.1157C>T MANE Select	NP_006431.2:p.Ser386Phe
NM_001352300.2:c.1154C>T	NP_001339229.1:p.Ser385Phe
NR_147957.2:n.1115C>T
NM_001352301.2:c.1067C>T	NP_001339230.1:p.Ser356Phe
NM_001352302.2:c.869C>T	NP_001339231.1:p.Ser290Phe