Canonical Allele Identifier: CA410686314

Gene: TXNRD2

Linked Data

• MyVariant Identifiers: chr22:g.19882941A>G (hg19) ; chr22:g.19895418A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19895418A>G , CM000684.2:g.19895418A>G	GRCh38
NC_000022.10:g.19882941A>G , CM000684.1:g.19882941A>G	GRCh37
NC_000022.9:g.18262941A>G	NCBI36
NG_011835.1:g.51419T>C , LRG_417:g.51419T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000400521.7:c.938T>C MANE Select	ENSP00000383365.1:p.Leu313Pro
ENST00000334363.14:c.938T>C	ENSP00000334451.9:p.Leu313Pro
ENST00000400518.5:c.848T>C	ENSP00000383362.1:p.Leu283Pro
ENST00000400519.6:c.935T>C	ENSP00000383363.1:p.Leu312Pro
ENST00000400521.6:c.938T>C	ENSP00000383365.1:p.Leu313Pro
ENST00000400525.6:c.869T>C	ENSP00000383369.3:p.Leu290Pro
ENST00000474308.5:c.881T>C	ENSP00000485665.1:p.Leu294Pro
ENST00000475995.3:c.435T>C
ENST00000491939.6:c.842T>C	ENSP00000485543.1:p.Leu281Pro
ENST00000494454.5:n.1012T>C
ENST00000542719.6:c.650T>C	ENSP00000485128.2:p.Leu217Pro
ENST00000634537.1:c.167T>C	ENSP00000489208.1:p.Leu56Pro
ENST00000635155.1:n.524T>C
NM_001282512.1:c.938T>C	NP_001269441.1:p.Leu313Pro
NM_006440.4:c.938T>C	NP_006431.2:p.Leu313Pro
NM_001282512.2:c.938T>C	NP_001269441.1:p.Leu313Pro
NM_001352300.1:c.935T>C	NP_001339229.1:p.Leu312Pro
NM_001352301.1:c.848T>C	NP_001339230.1:p.Leu283Pro
NM_001352302.1:c.650T>C	NP_001339231.1:p.Leu217Pro
NM_001352303.1:c.842T>C	NP_001339232.1:p.Leu281Pro
NR_147957.1:n.1070T>C
NM_006440.5:c.938T>C MANE Select	NP_006431.2:p.Leu313Pro
NM_001282512.3:c.938T>C	NP_001269441.1:p.Leu313Pro
NM_001352300.2:c.935T>C	NP_001339229.1:p.Leu312Pro
NR_147957.2:n.896T>C
NM_001352301.2:c.848T>C	NP_001339230.1:p.Leu283Pro
NM_001352302.2:c.650T>C	NP_001339231.1:p.Leu217Pro
NM_001352303.2:c.842T>C	NP_001339232.1:p.Leu281Pro