Canonical Allele Identifier: CA513369073

Gene: TXNRD2

Linked Data

• ClinVar Variation Id: 2564289
• ClinVar RCV Id: RCV003310787
• MyVariant Identifiers: chr22:g.19906445T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19918922T>G , CM000684.2:g.19918922T>G	GRCh38
NC_000022.10:g.19906445T>G , CM000684.1:g.19906445T>G	GRCh37
NC_000022.9:g.18286445T>G	NCBI36
NG_011835.1:g.27915A>C , LRG_417:g.27915A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000400521.7:c.312A>C MANE Select	ENSP00000383365.1:p.Gly104=
ENST00000334363.14:c.312A>C	ENSP00000334451.9:p.Gly104=
ENST00000400518.5:c.222A>C	ENSP00000383362.1:p.Gly74=
ENST00000400519.6:c.309A>C	ENSP00000383363.1:p.Gly103=
ENST00000400521.6:c.312A>C	ENSP00000383365.1:p.Gly104=
ENST00000400525.6:c.243A>C	ENSP00000383369.3:p.Gly81=
ENST00000474308.5:c.255A>C	ENSP00000485665.1:p.Gly85=
ENST00000491939.6:c.216A>C	ENSP00000485543.1:p.Gly72=
ENST00000496729.2:n.317A>C
ENST00000542719.6:c.24A>C	ENSP00000485128.2:p.Gly8=
NM_001282512.1:c.312A>C	NP_001269441.1:p.Gly104=
NM_006440.4:c.312A>C	NP_006431.2:p.Gly104=
NM_001282512.2:c.312A>C	NP_001269441.1:p.Gly104=
NM_001352300.1:c.309A>C	NP_001339229.1:p.Gly103=
NM_001352301.1:c.222A>C	NP_001339230.1:p.Gly74=
NM_001352302.1:c.24A>C	NP_001339231.1:p.Gly8=
NM_001352303.1:c.216A>C	NP_001339232.1:p.Gly72=
NR_147957.1:n.444A>C
NM_006440.5:c.312A>C MANE Select	NP_006431.2:p.Gly104=
NM_001282512.3:c.312A>C	NP_001269441.1:p.Gly104=
NM_001352300.2:c.309A>C	NP_001339229.1:p.Gly103=
NR_147957.2:n.270A>C
NM_001352301.2:c.222A>C	NP_001339230.1:p.Gly74=
NM_001352302.2:c.24A>C	NP_001339231.1:p.Gly8=
NM_001352303.2:c.216A>C	NP_001339232.1:p.Gly72=