Canonical Allele Identifier: CA10103908

Gene: TXNRD2

Linked Data

• dbSNP Id: rs371751545
• ExAC: 22:19882685 G / T
• gnomAD v2: 22-19882685-G-T
• gnomAD v3: 22-19895162-G-T
• gnomAD v4: 22-19895162-G-T
• MyVariant Identifiers: chr22:g.19882685G>T (hg19) ; chr22:g.19895162G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19895162G>T , CM000684.2:g.19895162G>T	GRCh38
NC_000022.10:g.19882685G>T , CM000684.1:g.19882685G>T	GRCh37
NC_000022.9:g.18262685G>T	NCBI36
NG_011835.1:g.51675C>A , LRG_417:g.51675C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000400521.7:c.949+245C>A MANE Select	ENSP00000383365.1:n.949+245C>A
ENST00000334363.14:c.988C>A	ENSP00000334451.9:p.His330Asn
ENST00000400518.5:c.859+245C>A	ENSP00000383362.1:n.859+245C>A
ENST00000400519.6:c.946+245C>A	ENSP00000383363.1:n.946+245C>A
ENST00000400521.6:c.949+245C>A	ENSP00000383365.1:n.949+245C>A
ENST00000400525.6:c.880+245C>A	ENSP00000383369.3:n.880+245C>A
ENST00000474308.5:c.892+245C>A	ENSP00000485665.1:n.892+245C>A
ENST00000475995.3:c.605C>A
ENST00000491939.6:c.892C>A	ENSP00000485543.1:p.His298Asn
ENST00000494454.5:n.1023+245C>A
ENST00000542719.6:c.661+245C>A	ENSP00000485128.2:n.661+245C>A
ENST00000634537.1:c.178+245C>A	ENSP00000489208.1:n.178+245C>A
ENST00000635155.1:n.535+245C>A
NM_001282512.1:c.988C>A	NP_001269441.1:p.His330Asn
NM_006440.4:c.949+245C>A	NP_006431.2:n.949+245C>A
NM_001282512.2:c.988C>A	NP_001269441.1:p.His330Asn
NM_001352300.1:c.946+245C>A	NP_001339229.1:n.946+245C>A
NM_001352301.1:c.859+245C>A	NP_001339230.1:n.859+245C>A
NM_001352302.1:c.661+245C>A	NP_001339231.1:n.661+245C>A
NM_001352303.1:c.892C>A	NP_001339232.1:p.His298Asn
NR_147957.1:n.1081+245C>A
NM_006440.5:c.949+245C>A MANE Select	NP_006431.2:n.949+245C>A
NM_001282512.3:c.988C>A	NP_001269441.1:p.His330Asn
NM_001352300.2:c.946+245C>A	NP_001339229.1:n.946+245C>A
NR_147957.2:n.907+245C>A
NM_001352301.2:c.859+245C>A	NP_001339230.1:n.859+245C>A
NM_001352302.2:c.661+245C>A	NP_001339231.1:n.661+245C>A
NM_001352303.2:c.892C>A	NP_001339232.1:p.His298Asn