Canonical Allele Identifier: CA10104253

Gene: TXNRD2

Linked Data

• ClinVar Variation Id: 1060189
• ClinVar RCV Id: RCV001369581
• dbSNP Id: rs756368327
• ExAC: 22:19906396 C / T
• gnomAD v2: 22-19906396-C-T
• gnomAD v3: 22-19918873-C-T
• gnomAD v4: 22-19918873-C-T
• MyVariant Identifiers: chr22:g.19906396C>T (hg19) ; chr22:g.19918873C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19918873C>T , CM000684.2:g.19918873C>T	GRCh38
NC_000022.10:g.19906396C>T , CM000684.1:g.19906396C>T	GRCh37
NC_000022.9:g.18286396C>T	NCBI36
NG_011835.1:g.27964G>A , LRG_417:g.27964G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000400521.7:c.361G>A MANE Select	ENSP00000383365.1:p.Val121Met
ENST00000334363.14:c.361G>A	ENSP00000334451.9:p.Val121Met
ENST00000400518.5:c.271G>A	ENSP00000383362.1:p.Val91Met
ENST00000400519.6:c.358G>A	ENSP00000383363.1:p.Val120Met
ENST00000400521.6:c.361G>A	ENSP00000383365.1:p.Val121Met
ENST00000400525.6:c.292G>A	ENSP00000383369.3:p.Val98Met
ENST00000474308.5:c.304G>A	ENSP00000485665.1:p.Val102Met
ENST00000491939.6:c.265G>A	ENSP00000485543.1:p.Val89Met
ENST00000496729.2:n.366G>A
ENST00000542719.6:c.73G>A	ENSP00000485128.2:p.Val25Met
NM_001282512.1:c.361G>A	NP_001269441.1:p.Val121Met
NM_006440.4:c.361G>A	NP_006431.2:p.Val121Met
NM_001282512.2:c.361G>A	NP_001269441.1:p.Val121Met
NM_001352300.1:c.358G>A	NP_001339229.1:p.Val120Met
NM_001352301.1:c.271G>A	NP_001339230.1:p.Val91Met
NM_001352302.1:c.73G>A	NP_001339231.1:p.Val25Met
NM_001352303.1:c.265G>A	NP_001339232.1:p.Val89Met
NR_147957.1:n.493G>A
NM_006440.5:c.361G>A MANE Select	NP_006431.2:p.Val121Met
NM_001282512.3:c.361G>A	NP_001269441.1:p.Val121Met
NM_001352300.2:c.358G>A	NP_001339229.1:p.Val120Met
NR_147957.2:n.319G>A
NM_001352301.2:c.271G>A	NP_001339230.1:p.Val91Met
NM_001352302.2:c.73G>A	NP_001339231.1:p.Val25Met
NM_001352303.2:c.265G>A	NP_001339232.1:p.Val89Met