Canonical Allele Identifier: CA10103949

Gene: TXNRD2

Linked Data

• ClinVar Variation Id: 450970
• ClinVar RCV Id: RCV000519091 ; RCV001374084 ; RCV003159677
• dbSNP Id: rs781228620
• ExAC: 22:19882975 C / T
• gnomAD v2: 22-19882975-C-T
• gnomAD v3: 22-19895452-C-T
• gnomAD v4: 22-19895452-C-T
• MyVariant Identifiers: chr22:g.19882975C>T (hg19) ; chr22:g.19895452C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19895452C>T , CM000684.2:g.19895452C>T	GRCh38
NC_000022.10:g.19882975C>T , CM000684.1:g.19882975C>T	GRCh37
NC_000022.9:g.18262975C>T	NCBI36
NG_011835.1:g.51385G>A , LRG_417:g.51385G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000400521.7:c.904G>A MANE Select	ENSP00000383365.1:p.Gly302Ser
ENST00000334363.14:c.904G>A	ENSP00000334451.9:p.Gly302Ser
ENST00000400518.5:c.814G>A	ENSP00000383362.1:p.Gly272Ser
ENST00000400519.6:c.901G>A	ENSP00000383363.1:p.Gly301Ser
ENST00000400521.6:c.904G>A	ENSP00000383365.1:p.Gly302Ser
ENST00000400525.6:c.835G>A	ENSP00000383369.3:p.Gly279Ser
ENST00000474308.5:c.847G>A	ENSP00000485665.1:p.Gly283Ser
ENST00000475995.3:c.401G>A
ENST00000491939.6:c.808G>A	ENSP00000485543.1:p.Gly270Ser
ENST00000494454.5:n.978G>A
ENST00000542719.6:c.616G>A	ENSP00000485128.2:p.Gly206Ser
ENST00000634537.1:c.133G>A	ENSP00000489208.1:p.Gly45Ser
ENST00000635155.1:n.490G>A
NM_001282512.1:c.904G>A	NP_001269441.1:p.Gly302Ser
NM_006440.4:c.904G>A	NP_006431.2:p.Gly302Ser
NM_001282512.2:c.904G>A	NP_001269441.1:p.Gly302Ser
NM_001352300.1:c.901G>A	NP_001339229.1:p.Gly301Ser
NM_001352301.1:c.814G>A	NP_001339230.1:p.Gly272Ser
NM_001352302.1:c.616G>A	NP_001339231.1:p.Gly206Ser
NM_001352303.1:c.808G>A	NP_001339232.1:p.Gly270Ser
NR_147957.1:n.1036G>A
NM_006440.5:c.904G>A MANE Select	NP_006431.2:p.Gly302Ser
NM_001282512.3:c.904G>A	NP_001269441.1:p.Gly302Ser
NM_001352300.2:c.901G>A	NP_001339229.1:p.Gly301Ser
NR_147957.2:n.862G>A
NM_001352301.2:c.814G>A	NP_001339230.1:p.Gly272Ser
NM_001352302.2:c.616G>A	NP_001339231.1:p.Gly206Ser
NM_001352303.2:c.808G>A	NP_001339232.1:p.Gly270Ser