Canonical Allele Identifier: CA10104252

Gene: TXNRD2

Linked Data

• ClinVar Variation Id: 1733664
• ClinVar RCV Id: RCV002452538 ; RCV003102420
• dbSNP Id: rs745896340
• ExAC: 22:19906392 G / A
• gnomAD v2: 22-19906392-G-A
• gnomAD v3: 22-19918869-G-A
• gnomAD v4: 22-19918869-G-A
• MyVariant Identifiers: chr22:g.19906392G>A (hg19) ; chr22:g.19918869G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19918869G>A , CM000684.2:g.19918869G>A	GRCh38
NC_000022.10:g.19906392G>A , CM000684.1:g.19906392G>A	GRCh37
NC_000022.9:g.18286392G>A	NCBI36
NG_011835.1:g.27968C>T , LRG_417:g.27968C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000400521.7:c.365C>T MANE Select	ENSP00000383365.1:p.Pro122Leu
ENST00000334363.14:c.365C>T	ENSP00000334451.9:p.Pro122Leu
ENST00000400518.5:c.275C>T	ENSP00000383362.1:p.Pro92Leu
ENST00000400519.6:c.362C>T	ENSP00000383363.1:p.Pro121Leu
ENST00000400521.6:c.365C>T	ENSP00000383365.1:p.Pro122Leu
ENST00000400525.6:c.296C>T	ENSP00000383369.3:p.Pro99Leu
ENST00000474308.5:c.308C>T	ENSP00000485665.1:p.Pro103Leu
ENST00000491939.6:c.269C>T	ENSP00000485543.1:p.Pro90Leu
ENST00000496729.2:n.370C>T
ENST00000542719.6:c.77C>T	ENSP00000485128.2:p.Pro26Leu
NM_001282512.1:c.365C>T	NP_001269441.1:p.Pro122Leu
NM_006440.4:c.365C>T	NP_006431.2:p.Pro122Leu
NM_001282512.2:c.365C>T	NP_001269441.1:p.Pro122Leu
NM_001352300.1:c.362C>T	NP_001339229.1:p.Pro121Leu
NM_001352301.1:c.275C>T	NP_001339230.1:p.Pro92Leu
NM_001352302.1:c.77C>T	NP_001339231.1:p.Pro26Leu
NM_001352303.1:c.269C>T	NP_001339232.1:p.Pro90Leu
NR_147957.1:n.497C>T
NM_006440.5:c.365C>T MANE Select	NP_006431.2:p.Pro122Leu
NM_001282512.3:c.365C>T	NP_001269441.1:p.Pro122Leu
NM_001352300.2:c.362C>T	NP_001339229.1:p.Pro121Leu
NR_147957.2:n.323C>T
NM_001352301.2:c.275C>T	NP_001339230.1:p.Pro92Leu
NM_001352302.2:c.77C>T	NP_001339231.1:p.Pro26Leu
NM_001352303.2:c.269C>T	NP_001339232.1:p.Pro90Leu