Canonical Allele Identifier: CA513361658

Gene: TXNRD2

Linked Data

• gnomAD v4: 22-19880691-C-A
• COSMIC: COSM419643
• MyVariant Identifiers: chr22:g.19868214C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19880691C>A , CM000684.2:g.19880691C>A	GRCh38
NC_000022.10:g.19868214C>A , CM000684.1:g.19868214C>A	GRCh37
NC_000022.9:g.18248214C>A	NCBI36
NG_011835.1:g.66146G>T , LRG_417:g.66146G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000400521.7:c.1113G>T MANE Select	ENSP00000383365.1:p.Ala371=
ENST00000400518.5:c.1023G>T	ENSP00000383362.1:p.Ala341=
ENST00000400519.6:c.1110G>T	ENSP00000383363.1:p.Ala370=
ENST00000400521.6:c.1113G>T	ENSP00000383365.1:p.Ala371=
ENST00000400525.6:c.1044G>T	ENSP00000383369.3:p.Ala348=
ENST00000462330.5:c.36G>T	ENSP00000485603.2:p.Ala12=
ENST00000462843.2:c.63G>T	ENSP00000485466.2:p.Ala21=
ENST00000474308.5:c.1056G>T	ENSP00000485665.1:p.Ala352=
ENST00000485358.5:c.81G>T	ENSP00000485499.2:p.Ala27=
ENST00000487165.5:n.1207G>T
ENST00000494454.5:n.1187G>T
ENST00000495655.2:n.657G>T
ENST00000542719.6:c.825G>T	ENSP00000485128.2:p.Ala275=
ENST00000634471.1:n.244-420G>T
ENST00000634537.1:c.342G>T	ENSP00000489208.1:p.Ala114=
NM_006440.4:c.1113G>T	NP_006431.2:p.Ala371=
NM_001352300.1:c.1110G>T	NP_001339229.1:p.Ala370=
NM_001352301.1:c.1023G>T	NP_001339230.1:p.Ala341=
NM_001352302.1:c.825G>T	NP_001339231.1:p.Ala275=
NR_147957.1:n.1245G>T
NM_006440.5:c.1113G>T MANE Select	NP_006431.2:p.Ala371=
NM_001352300.2:c.1110G>T	NP_001339229.1:p.Ala370=
NR_147957.2:n.1071G>T
NM_001352301.2:c.1023G>T	NP_001339230.1:p.Ala341=
NM_001352302.2:c.825G>T	NP_001339231.1:p.Ala275=