Canonical Allele Identifier: CA513365327

Gene: TXNRD2

Linked Data

• ClinVar Variation Id: 1644654
• ClinVar RCV Id: RCV002148299
• dbSNP Id: rs1416399071
• gnomAD v2: 22-19883039-G-T
• gnomAD v4: 22-19895516-G-T
• MyVariant Identifiers: chr22:g.19883039G>T (hg19) ; chr22:g.19895516G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19895516G>T , CM000684.2:g.19895516G>T	GRCh38
NC_000022.10:g.19883039G>T , CM000684.1:g.19883039G>T	GRCh37
NC_000022.9:g.18263039G>T	NCBI36
NG_011835.1:g.51321C>A , LRG_417:g.51321C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000400521.7:c.840C>A MANE Select	ENSP00000383365.1:p.Ala280=
ENST00000334363.14:c.840C>A	ENSP00000334451.9:p.Ala280=
ENST00000400518.5:c.750C>A	ENSP00000383362.1:p.Ala250=
ENST00000400519.6:c.837C>A	ENSP00000383363.1:p.Ala279=
ENST00000400521.6:c.840C>A	ENSP00000383365.1:p.Ala280=
ENST00000400525.6:c.771C>A	ENSP00000383369.3:p.Ala257=
ENST00000474308.5:c.783C>A	ENSP00000485665.1:p.Ala261=
ENST00000475995.3:c.337C>A
ENST00000491939.6:c.744C>A	ENSP00000485543.1:p.Ala248=
ENST00000494454.5:n.914C>A
ENST00000542719.6:c.552C>A	ENSP00000485128.2:p.Ala184=
ENST00000634537.1:c.69C>A	ENSP00000489208.1:p.Ala23=
ENST00000635155.1:n.426C>A
NM_001282512.1:c.840C>A	NP_001269441.1:p.Ala280=
NM_006440.4:c.840C>A	NP_006431.2:p.Ala280=
NM_001282512.2:c.840C>A	NP_001269441.1:p.Ala280=
NM_001352300.1:c.837C>A	NP_001339229.1:p.Ala279=
NM_001352301.1:c.750C>A	NP_001339230.1:p.Ala250=
NM_001352302.1:c.552C>A	NP_001339231.1:p.Ala184=
NM_001352303.1:c.744C>A	NP_001339232.1:p.Ala248=
NR_147957.1:n.972C>A
NM_006440.5:c.840C>A MANE Select	NP_006431.2:p.Ala280=
NM_001282512.3:c.840C>A	NP_001269441.1:p.Ala280=
NM_001352300.2:c.837C>A	NP_001339229.1:p.Ala279=
NR_147957.2:n.798C>A
NM_001352301.2:c.750C>A	NP_001339230.1:p.Ala250=
NM_001352302.2:c.552C>A	NP_001339231.1:p.Ala184=
NM_001352303.2:c.744C>A	NP_001339232.1:p.Ala248=