Canonical Allele Identifier: CA10103779

Gene: TXNRD2

Linked Data

• ClinVar Variation Id: 1736767
• ClinVar RCV Id: RCV002375581
• dbSNP Id: rs777907161
• ExAC: 22:19868166 T / C
• gnomAD v2: 22-19868166-T-C
• gnomAD v4: 22-19880643-T-C
• MyVariant Identifiers: chr22:g.19868166T>C (hg19) ; chr22:g.19880643T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19880643T>C , CM000684.2:g.19880643T>C	GRCh38
NC_000022.10:g.19868166T>C , CM000684.1:g.19868166T>C	GRCh37
NC_000022.9:g.18248166T>C	NCBI36
NG_011835.1:g.66194A>G , LRG_417:g.66194A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000400521.7:c.1161A>G MANE Select	ENSP00000383365.1:p.Ser387=
ENST00000400518.5:c.1071A>G	ENSP00000383362.1:p.Ser357=
ENST00000400519.6:c.1158A>G	ENSP00000383363.1:p.Ser386=
ENST00000400521.6:c.1161A>G	ENSP00000383365.1:p.Ser387=
ENST00000400525.6:c.1092A>G	ENSP00000383369.3:p.Ser364=
ENST00000462330.5:c.84A>G	ENSP00000485603.2:p.Ser28=
ENST00000462843.2:c.111A>G	ENSP00000485466.2:p.Ser37=
ENST00000474308.5:c.1104A>G	ENSP00000485665.1:p.Ser368=
ENST00000485358.5:c.129A>G	ENSP00000485499.2:p.Ser43=
ENST00000487165.5:n.1255A>G
ENST00000494454.5:n.1235A>G
ENST00000495655.2:n.705A>G
ENST00000542719.6:c.873A>G	ENSP00000485128.2:p.Ser291=
ENST00000634471.1:n.244-372A>G
ENST00000634537.1:c.390A>G	ENSP00000489208.1:p.Ser130=
NM_006440.4:c.1161A>G	NP_006431.2:p.Ser387=
NM_001352300.1:c.1158A>G	NP_001339229.1:p.Ser386=
NM_001352301.1:c.1071A>G	NP_001339230.1:p.Ser357=
NM_001352302.1:c.873A>G	NP_001339231.1:p.Ser291=
NR_147957.1:n.1293A>G
NM_006440.5:c.1161A>G MANE Select	NP_006431.2:p.Ser387=
NM_001352300.2:c.1158A>G	NP_001339229.1:p.Ser386=
NR_147957.2:n.1119A>G
NM_001352301.2:c.1071A>G	NP_001339230.1:p.Ser357=
NM_001352302.2:c.873A>G	NP_001339231.1:p.Ser291=