Canonical Allele Identifier: CA10103806

Gene: TXNRD2

Linked Data

• ClinVar Variation Id: 263358
• ClinVar RCV Id: RCV000250205 ; RCV000421352 ; RCV000468749
• dbSNP Id: rs35544159
• ExAC: 22:19868228 G / A
• gnomAD v2: 22-19868228-G-A
• gnomAD v3: 22-19880705-G-A
• gnomAD v4: 22-19880705-G-A
• MyVariant Identifiers: chr22:g.19868228G>A (hg19) ; chr22:g.19880705G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19880705G>A , CM000684.2:g.19880705G>A	GRCh38
NC_000022.10:g.19868228G>A , CM000684.1:g.19868228G>A	GRCh37
NC_000022.9:g.18248228G>A	NCBI36
NG_011835.1:g.66132C>T , LRG_417:g.66132C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000400521.7:c.1099C>T MANE Select	ENSP00000383365.1:p.Leu367=
ENST00000400518.5:c.1009C>T	ENSP00000383362.1:p.Leu337=
ENST00000400519.6:c.1096C>T	ENSP00000383363.1:p.Leu366=
ENST00000400521.6:c.1099C>T	ENSP00000383365.1:p.Leu367=
ENST00000400525.6:c.1030C>T	ENSP00000383369.3:p.Leu344=
ENST00000462330.5:c.22C>T	ENSP00000485603.2:p.Leu8=
ENST00000462843.2:c.49C>T	ENSP00000485466.2:p.Leu17=
ENST00000474308.5:c.1042C>T	ENSP00000485665.1:p.Leu348=
ENST00000485358.5:c.67C>T	ENSP00000485499.2:p.Leu23=
ENST00000487165.5:n.1193C>T
ENST00000494454.5:n.1173C>T
ENST00000495655.2:n.643C>T
ENST00000542719.6:c.811C>T	ENSP00000485128.2:p.Leu271=
ENST00000634471.1:n.244-434C>T
ENST00000634537.1:c.328C>T	ENSP00000489208.1:p.Leu110=
NM_006440.4:c.1099C>T	NP_006431.2:p.Leu367=
NM_001352300.1:c.1096C>T	NP_001339229.1:p.Leu366=
NM_001352301.1:c.1009C>T	NP_001339230.1:p.Leu337=
NM_001352302.1:c.811C>T	NP_001339231.1:p.Leu271=
NR_147957.1:n.1231C>T
NM_006440.5:c.1099C>T MANE Select	NP_006431.2:p.Leu367=
NM_001352300.2:c.1096C>T	NP_001339229.1:p.Leu366=
NR_147957.2:n.1057C>T
NM_001352301.2:c.1009C>T	NP_001339230.1:p.Leu337=
NM_001352302.2:c.811C>T	NP_001339231.1:p.Leu271=