Canonical Allele Identifier: CA10103786

Gene: TXNRD2

Linked Data

• ClinVar Variation Id: 263784
• ClinVar RCV Id: RCV000253691 ; RCV000470015 ; RCV000441585 ; RCV001528755
• dbSNP Id: rs192869629
• ExAC: 22:19868177 C / T
• gnomAD v2: 22-19868177-C-T
• gnomAD v3: 22-19880654-C-T
• gnomAD v4: 22-19880654-C-T
• MyVariant Identifiers: chr22:g.19868177C>T (hg19) ; chr22:g.19880654C>T (hg38)
• PubMed: PMID:21247928

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19880654C>T , CM000684.2:g.19880654C>T	GRCh38
NC_000022.10:g.19868177C>T , CM000684.1:g.19868177C>T	GRCh37
NC_000022.9:g.18248177C>T	NCBI36
NG_011835.1:g.66183G>A , LRG_417:g.66183G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000400521.7:c.1150G>A MANE Select	ENSP00000383365.1:p.Gly384Ser
ENST00000400518.5:c.1060G>A	ENSP00000383362.1:p.Gly354Ser
ENST00000400519.6:c.1147G>A	ENSP00000383363.1:p.Gly383Ser
ENST00000400521.6:c.1150G>A	ENSP00000383365.1:p.Gly384Ser
ENST00000400525.6:c.1081G>A	ENSP00000383369.3:p.Gly361Ser
ENST00000462330.5:c.73G>A	ENSP00000485603.2:p.Gly25Ser
ENST00000462843.2:c.100G>A	ENSP00000485466.2:p.Gly34Ser
ENST00000474308.5:c.1093G>A	ENSP00000485665.1:p.Gly365Ser
ENST00000485358.5:c.118G>A	ENSP00000485499.2:p.Gly40Ser
ENST00000487165.5:n.1244G>A
ENST00000494454.5:n.1224G>A
ENST00000495655.2:n.694G>A
ENST00000542719.6:c.862G>A	ENSP00000485128.2:p.Gly288Ser
ENST00000634471.1:n.244-383G>A
ENST00000634537.1:c.379G>A	ENSP00000489208.1:p.Gly127Ser
NM_006440.4:c.1150G>A	NP_006431.2:p.Gly384Ser
NM_001352300.1:c.1147G>A	NP_001339229.1:p.Gly383Ser
NM_001352301.1:c.1060G>A	NP_001339230.1:p.Gly354Ser
NM_001352302.1:c.862G>A	NP_001339231.1:p.Gly288Ser
NR_147957.1:n.1282G>A
NM_006440.5:c.1150G>A MANE Select	NP_006431.2:p.Gly384Ser
NM_001352300.2:c.1147G>A	NP_001339229.1:p.Gly383Ser
NR_147957.2:n.1108G>A
NM_001352301.2:c.1060G>A	NP_001339230.1:p.Gly354Ser
NM_001352302.2:c.862G>A	NP_001339231.1:p.Gly288Ser