Canonical Allele Identifier: CA10104251

Gene: TXNRD2

Linked Data

• ClinVar Variation Id: 1149689
• ClinVar RCV Id: RCV001490005 ; RCV001555832 ; RCV002351016
• dbSNP Id: rs3747068
• ExAC: 22:19906391 C / T
• gnomAD v2: 22-19906391-C-T
• gnomAD v3: 22-19918868-C-T
• gnomAD v4: 22-19918868-C-T
• MyVariant Identifiers: chr22:g.19906391C>T (hg19) ; chr22:g.19918868C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19918868C>T , CM000684.2:g.19918868C>T	GRCh38
NC_000022.10:g.19906391C>T , CM000684.1:g.19906391C>T	GRCh37
NC_000022.9:g.18286391C>T	NCBI36
NG_011835.1:g.27969G>A , LRG_417:g.27969G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000400521.7:c.366G>A MANE Select	ENSP00000383365.1:p.Pro122=
ENST00000334363.14:c.366G>A	ENSP00000334451.9:p.Pro122=
ENST00000400518.5:c.276G>A	ENSP00000383362.1:p.Pro92=
ENST00000400519.6:c.363G>A	ENSP00000383363.1:p.Pro121=
ENST00000400521.6:c.366G>A	ENSP00000383365.1:p.Pro122=
ENST00000400525.6:c.297G>A	ENSP00000383369.3:p.Pro99=
ENST00000474308.5:c.309G>A	ENSP00000485665.1:p.Pro103=
ENST00000491939.6:c.270G>A	ENSP00000485543.1:p.Pro90=
ENST00000496729.2:n.371G>A
ENST00000542719.6:c.78G>A	ENSP00000485128.2:p.Pro26=
NM_001282512.1:c.366G>A	NP_001269441.1:p.Pro122=
NM_006440.4:c.366G>A	NP_006431.2:p.Pro122=
NM_001282512.2:c.366G>A	NP_001269441.1:p.Pro122=
NM_001352300.1:c.363G>A	NP_001339229.1:p.Pro121=
NM_001352301.1:c.276G>A	NP_001339230.1:p.Pro92=
NM_001352302.1:c.78G>A	NP_001339231.1:p.Pro26=
NM_001352303.1:c.270G>A	NP_001339232.1:p.Pro90=
NR_147957.1:n.498G>A
NM_006440.5:c.366G>A MANE Select	NP_006431.2:p.Pro122=
NM_001282512.3:c.366G>A	NP_001269441.1:p.Pro122=
NM_001352300.2:c.363G>A	NP_001339229.1:p.Pro121=
NR_147957.2:n.324G>A
NM_001352301.2:c.276G>A	NP_001339230.1:p.Pro92=
NM_001352302.2:c.78G>A	NP_001339231.1:p.Pro26=
NM_001352303.2:c.270G>A	NP_001339232.1:p.Pro90=