Canonical Allele Identifier: CA410681982

Gene: TXNRD2

Linked Data

• MyVariant Identifiers: chr22:g.19868198G>T (hg19) ; chr22:g.19880675G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19880675G>T , CM000684.2:g.19880675G>T	GRCh38
NC_000022.10:g.19868198G>T , CM000684.1:g.19868198G>T	GRCh37
NC_000022.9:g.18248198G>T	NCBI36
NG_011835.1:g.66162C>A , LRG_417:g.66162C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000400521.7:c.1129C>A MANE Select	ENSP00000383365.1:p.Leu377Ile
ENST00000400518.5:c.1039C>A	ENSP00000383362.1:p.Leu347Ile
ENST00000400519.6:c.1126C>A	ENSP00000383363.1:p.Leu376Ile
ENST00000400521.6:c.1129C>A	ENSP00000383365.1:p.Leu377Ile
ENST00000400525.6:c.1060C>A	ENSP00000383369.3:p.Leu354Ile
ENST00000462330.5:c.52C>A	ENSP00000485603.2:p.Leu18Ile
ENST00000462843.2:c.79C>A	ENSP00000485466.2:p.Leu27Ile
ENST00000474308.5:c.1072C>A	ENSP00000485665.1:p.Leu358Ile
ENST00000485358.5:c.97C>A	ENSP00000485499.2:p.Leu33Ile
ENST00000487165.5:n.1223C>A
ENST00000494454.5:n.1203C>A
ENST00000495655.2:n.673C>A
ENST00000542719.6:c.841C>A	ENSP00000485128.2:p.Leu281Ile
ENST00000634471.1:n.244-404C>A
ENST00000634537.1:c.358C>A	ENSP00000489208.1:p.Leu120Ile
NM_006440.4:c.1129C>A	NP_006431.2:p.Leu377Ile
NM_001352300.1:c.1126C>A	NP_001339229.1:p.Leu376Ile
NM_001352301.1:c.1039C>A	NP_001339230.1:p.Leu347Ile
NM_001352302.1:c.841C>A	NP_001339231.1:p.Leu281Ile
NR_147957.1:n.1261C>A
NM_006440.5:c.1129C>A MANE Select	NP_006431.2:p.Leu377Ile
NM_001352300.2:c.1126C>A	NP_001339229.1:p.Leu376Ile
NR_147957.2:n.1087C>A
NM_001352301.2:c.1039C>A	NP_001339230.1:p.Leu347Ile
NM_001352302.2:c.841C>A	NP_001339231.1:p.Leu281Ile