Canonical Allele Identifier: CA513361665

Gene: TXNRD2

Linked Data

• dbSNP Id: rs1938733985
• gnomAD v4: 22-19880703-C-G
• MyVariant Identifiers: chr22:g.19868226C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19880703C>G , CM000684.2:g.19880703C>G	GRCh38
NC_000022.10:g.19868226C>G , CM000684.1:g.19868226C>G	GRCh37
NC_000022.9:g.18248226C>G	NCBI36
NG_011835.1:g.66134G>C , LRG_417:g.66134G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000400521.7:c.1101G>C MANE Select	ENSP00000383365.1:p.Leu367=
ENST00000400518.5:c.1011G>C	ENSP00000383362.1:p.Leu337=
ENST00000400519.6:c.1098G>C	ENSP00000383363.1:p.Leu366=
ENST00000400521.6:c.1101G>C	ENSP00000383365.1:p.Leu367=
ENST00000400525.6:c.1032G>C	ENSP00000383369.3:p.Leu344=
ENST00000462330.5:c.24G>C	ENSP00000485603.2:p.Leu8=
ENST00000462843.2:c.51G>C	ENSP00000485466.2:p.Leu17=
ENST00000474308.5:c.1044G>C	ENSP00000485665.1:p.Leu348=
ENST00000485358.5:c.69G>C	ENSP00000485499.2:p.Leu23=
ENST00000487165.5:n.1195G>C
ENST00000494454.5:n.1175G>C
ENST00000495655.2:n.645G>C
ENST00000542719.6:c.813G>C	ENSP00000485128.2:p.Leu271=
ENST00000634471.1:n.244-432G>C
ENST00000634537.1:c.330G>C	ENSP00000489208.1:p.Leu110=
NM_006440.4:c.1101G>C	NP_006431.2:p.Leu367=
NM_001352300.1:c.1098G>C	NP_001339229.1:p.Leu366=
NM_001352301.1:c.1011G>C	NP_001339230.1:p.Leu337=
NM_001352302.1:c.813G>C	NP_001339231.1:p.Leu271=
NR_147957.1:n.1233G>C
NM_006440.5:c.1101G>C MANE Select	NP_006431.2:p.Leu367=
NM_001352300.2:c.1098G>C	NP_001339229.1:p.Leu366=
NR_147957.2:n.1059G>C
NM_001352301.2:c.1011G>C	NP_001339230.1:p.Leu337=
NM_001352302.2:c.813G>C	NP_001339231.1:p.Leu271=