Canonical Allele Identifier: CA513369059

Gene: TXNRD2

Linked Data

• dbSNP Id: rs1215916342
• gnomAD v2: 22-19906424-G-A
• MyVariant Identifiers: chr22:g.19906424G>A (hg19) ; chr22:g.19918901G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19918901G>A , CM000684.2:g.19918901G>A	GRCh38
NC_000022.10:g.19906424G>A , CM000684.1:g.19906424G>A	GRCh37
NC_000022.9:g.18286424G>A	NCBI36
NG_011835.1:g.27936C>T , LRG_417:g.27936C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000400521.7:c.333C>T MANE Select	ENSP00000383365.1:p.Pro111=
ENST00000334363.14:c.333C>T	ENSP00000334451.9:p.Pro111=
ENST00000400518.5:c.243C>T	ENSP00000383362.1:p.Pro81=
ENST00000400519.6:c.330C>T	ENSP00000383363.1:p.Pro110=
ENST00000400521.6:c.333C>T	ENSP00000383365.1:p.Pro111=
ENST00000400525.6:c.264C>T	ENSP00000383369.3:p.Pro88=
ENST00000474308.5:c.276C>T	ENSP00000485665.1:p.Pro92=
ENST00000491939.6:c.237C>T	ENSP00000485543.1:p.Pro79=
ENST00000496729.2:n.338C>T
ENST00000542719.6:c.45C>T	ENSP00000485128.2:p.Pro15=
NM_001282512.1:c.333C>T	NP_001269441.1:p.Pro111=
NM_006440.4:c.333C>T	NP_006431.2:p.Pro111=
NM_001282512.2:c.333C>T	NP_001269441.1:p.Pro111=
NM_001352300.1:c.330C>T	NP_001339229.1:p.Pro110=
NM_001352301.1:c.243C>T	NP_001339230.1:p.Pro81=
NM_001352302.1:c.45C>T	NP_001339231.1:p.Pro15=
NM_001352303.1:c.237C>T	NP_001339232.1:p.Pro79=
NR_147957.1:n.465C>T
NM_006440.5:c.333C>T MANE Select	NP_006431.2:p.Pro111=
NM_001282512.3:c.333C>T	NP_001269441.1:p.Pro111=
NM_001352300.2:c.330C>T	NP_001339229.1:p.Pro110=
NR_147957.2:n.291C>T
NM_001352301.2:c.243C>T	NP_001339230.1:p.Pro81=
NM_001352302.2:c.45C>T	NP_001339231.1:p.Pro15=
NM_001352303.2:c.237C>T	NP_001339232.1:p.Pro79=