Canonical Allele Identifier: CA410686148

Gene: TXNRD2

Linked Data

• MyVariant Identifiers: chr22:g.19882716G>C (hg19) ; chr22:g.19895193G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19895193G>C , CM000684.2:g.19895193G>C	GRCh38
NC_000022.10:g.19882716G>C , CM000684.1:g.19882716G>C	GRCh37
NC_000022.9:g.18262716G>C	NCBI36
NG_011835.1:g.51644C>G , LRG_417:g.51644C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000400521.7:c.949+214C>G MANE Select	ENSP00000383365.1:n.949+214C>G
ENST00000334363.14:c.957C>G	ENSP00000334451.9:p.Cys319Trp
ENST00000400518.5:c.859+214C>G	ENSP00000383362.1:n.859+214C>G
ENST00000400519.6:c.946+214C>G	ENSP00000383363.1:n.946+214C>G
ENST00000400521.6:c.949+214C>G	ENSP00000383365.1:n.949+214C>G
ENST00000400525.6:c.880+214C>G	ENSP00000383369.3:n.880+214C>G
ENST00000474308.5:c.892+214C>G	ENSP00000485665.1:n.892+214C>G
ENST00000475995.3:c.574C>G
ENST00000491939.6:c.861C>G	ENSP00000485543.1:p.Cys287Trp
ENST00000494454.5:n.1023+214C>G
ENST00000542719.6:c.661+214C>G	ENSP00000485128.2:n.661+214C>G
ENST00000634537.1:c.178+214C>G	ENSP00000489208.1:n.178+214C>G
ENST00000635155.1:n.535+214C>G
NM_001282512.1:c.957C>G	NP_001269441.1:p.Cys319Trp
NM_006440.4:c.949+214C>G	NP_006431.2:n.949+214C>G
NM_001282512.2:c.957C>G	NP_001269441.1:p.Cys319Trp
NM_001352300.1:c.946+214C>G	NP_001339229.1:n.946+214C>G
NM_001352301.1:c.859+214C>G	NP_001339230.1:n.859+214C>G
NM_001352302.1:c.661+214C>G	NP_001339231.1:n.661+214C>G
NM_001352303.1:c.861C>G	NP_001339232.1:p.Cys287Trp
NR_147957.1:n.1081+214C>G
NM_006440.5:c.949+214C>G MANE Select	NP_006431.2:n.949+214C>G
NM_001282512.3:c.957C>G	NP_001269441.1:p.Cys319Trp
NM_001352300.2:c.946+214C>G	NP_001339229.1:n.946+214C>G
NR_147957.2:n.907+214C>G
NM_001352301.2:c.859+214C>G	NP_001339230.1:n.859+214C>G
NM_001352302.2:c.661+214C>G	NP_001339231.1:n.661+214C>G
NM_001352303.2:c.861C>G	NP_001339232.1:p.Cys287Trp