Canonical Allele Identifier: CA513369112

Gene: TXNRD2

Linked Data

• dbSNP Id: rs11541479
• gnomAD v3: 22-19918988-G-C
• gnomAD v4: 22-19918988-G-C
• MyVariant Identifiers: chr22:g.19906511G>C (hg19) ; chr22:g.19918988G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19918988G>C , CM000684.2:g.19918988G>C	GRCh38
NC_000022.10:g.19906511G>C , CM000684.1:g.19906511G>C	GRCh37
NC_000022.9:g.18286511G>C	NCBI36
NG_011835.1:g.27849C>G , LRG_417:g.27849C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000400521.7:c.246C>G MANE Select	ENSP00000383365.1:p.Leu82=
ENST00000334363.14:c.246C>G	ENSP00000334451.9:p.Leu82=
ENST00000400518.5:c.156C>G	ENSP00000383362.1:p.Leu52=
ENST00000400519.6:c.243C>G	ENSP00000383363.1:p.Leu81=
ENST00000400521.6:c.246C>G	ENSP00000383365.1:p.Leu82=
ENST00000400525.6:c.177C>G	ENSP00000383369.3:p.Leu59=
ENST00000474308.5:c.189C>G	ENSP00000485665.1:p.Leu63=
ENST00000491939.6:c.150C>G	ENSP00000485543.1:p.Leu50=
ENST00000496729.2:n.251C>G
ENST00000542719.6:c.-43C>G	ENSP00000485128.2:n.-43C>G
NM_001282512.1:c.246C>G	NP_001269441.1:p.Leu82=
NM_006440.4:c.246C>G	NP_006431.2:p.Leu82=
NM_001282512.2:c.246C>G	NP_001269441.1:p.Leu82=
NM_001352300.1:c.243C>G	NP_001339229.1:p.Leu81=
NM_001352301.1:c.156C>G	NP_001339230.1:p.Leu52=
NM_001352302.1:c.-43C>G	NP_001339231.1:n.-43C>G
NM_001352303.1:c.150C>G	NP_001339232.1:p.Leu50=
NR_147957.1:n.378C>G
NM_006440.5:c.246C>G MANE Select	NP_006431.2:p.Leu82=
NM_001282512.3:c.246C>G	NP_001269441.1:p.Leu82=
NM_001352300.2:c.243C>G	NP_001339229.1:p.Leu81=
NR_147957.2:n.204C>G
NM_001352301.2:c.156C>G	NP_001339230.1:p.Leu52=
NM_001352302.2:c.-43C>G	NP_001339231.1:n.-43C>G
NM_001352303.2:c.150C>G	NP_001339232.1:p.Leu50=