Canonical Allele Identifier: CA513361632

Gene: TXNRD2

Linked Data

• dbSNP Id: rs1172256804
• gnomAD v2: 22-19868181-G-A
• gnomAD v4: 22-19880658-G-A
• MyVariant Identifiers: chr22:g.19868181G>A (hg19) ; chr22:g.19880658G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19880658G>A , CM000684.2:g.19880658G>A	GRCh38
NC_000022.10:g.19868181G>A , CM000684.1:g.19868181G>A	GRCh37
NC_000022.9:g.18248181G>A	NCBI36
NG_011835.1:g.66179C>T , LRG_417:g.66179C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000400521.7:c.1146C>T MANE Select	ENSP00000383365.1:p.Leu382=
ENST00000400518.5:c.1056C>T	ENSP00000383362.1:p.Leu352=
ENST00000400519.6:c.1143C>T	ENSP00000383363.1:p.Leu381=
ENST00000400521.6:c.1146C>T	ENSP00000383365.1:p.Leu382=
ENST00000400525.6:c.1077C>T	ENSP00000383369.3:p.Leu359=
ENST00000462330.5:c.69C>T	ENSP00000485603.2:p.Leu23=
ENST00000462843.2:c.96C>T	ENSP00000485466.2:p.Leu32=
ENST00000474308.5:c.1089C>T	ENSP00000485665.1:p.Leu363=
ENST00000485358.5:c.114C>T	ENSP00000485499.2:p.Leu38=
ENST00000487165.5:n.1240C>T
ENST00000494454.5:n.1220C>T
ENST00000495655.2:n.690C>T
ENST00000542719.6:c.858C>T	ENSP00000485128.2:p.Leu286=
ENST00000634471.1:n.244-387C>T
ENST00000634537.1:c.375C>T	ENSP00000489208.1:p.Leu125=
NM_006440.4:c.1146C>T	NP_006431.2:p.Leu382=
NM_001352300.1:c.1143C>T	NP_001339229.1:p.Leu381=
NM_001352301.1:c.1056C>T	NP_001339230.1:p.Leu352=
NM_001352302.1:c.858C>T	NP_001339231.1:p.Leu286=
NR_147957.1:n.1278C>T
NM_006440.5:c.1146C>T MANE Select	NP_006431.2:p.Leu382=
NM_001352300.2:c.1143C>T	NP_001339229.1:p.Leu381=
NR_147957.2:n.1104C>T
NM_001352301.2:c.1056C>T	NP_001339230.1:p.Leu352=
NM_001352302.2:c.858C>T	NP_001339231.1:p.Leu286=