Canonical Allele Identifier: CA322105582

Gene: TXNRD2

Linked Data

• dbSNP Id: rs201658653
• gnomAD v4: 22-19918975-C-G
• MyVariant Identifiers: chr22:g.19906498C>G (hg19) ; chr22:g.19918975C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19918975C>G , CM000684.2:g.19918975C>G	GRCh38
NC_000022.10:g.19906498C>G , CM000684.1:g.19906498C>G	GRCh37
NC_000022.9:g.18286498C>G	NCBI36
NG_011835.1:g.27862G>C , LRG_417:g.27862G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000400521.7:c.259G>C MANE Select	ENSP00000383365.1:p.Val87Leu
ENST00000334363.14:c.259G>C	ENSP00000334451.9:p.Val87Leu
ENST00000400518.5:c.169G>C	ENSP00000383362.1:p.Val57Leu
ENST00000400519.6:c.256G>C	ENSP00000383363.1:p.Val86Leu
ENST00000400521.6:c.259G>C	ENSP00000383365.1:p.Val87Leu
ENST00000400525.6:c.190G>C	ENSP00000383369.3:p.Val64Leu
ENST00000474308.5:c.202G>C	ENSP00000485665.1:p.Val68Leu
ENST00000491939.6:c.163G>C	ENSP00000485543.1:p.Val55Leu
ENST00000496729.2:n.264G>C
ENST00000542719.6:c.-30G>C	ENSP00000485128.2:n.-30G>C
NM_001282512.1:c.259G>C	NP_001269441.1:p.Val87Leu
NM_006440.4:c.259G>C	NP_006431.2:p.Val87Leu
NM_001282512.2:c.259G>C	NP_001269441.1:p.Val87Leu
NM_001352300.1:c.256G>C	NP_001339229.1:p.Val86Leu
NM_001352301.1:c.169G>C	NP_001339230.1:p.Val57Leu
NM_001352302.1:c.-30G>C	NP_001339231.1:n.-30G>C
NM_001352303.1:c.163G>C	NP_001339232.1:p.Val55Leu
NR_147957.1:n.391G>C
NM_006440.5:c.259G>C MANE Select	NP_006431.2:p.Val87Leu
NM_001282512.3:c.259G>C	NP_001269441.1:p.Val87Leu
NM_001352300.2:c.256G>C	NP_001339229.1:p.Val86Leu
NR_147957.2:n.217G>C
NM_001352301.2:c.169G>C	NP_001339230.1:p.Val57Leu
NM_001352302.2:c.-30G>C	NP_001339231.1:n.-30G>C
NM_001352303.2:c.163G>C	NP_001339232.1:p.Val55Leu