Canonical Allele Identifier: CA410686153

Gene: TXNRD2

Linked Data

• MyVariant Identifiers: chr22:g.19882717C>A (hg19) ; chr22:g.19895194C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19895194C>A , CM000684.2:g.19895194C>A	GRCh38
NC_000022.10:g.19882717C>A , CM000684.1:g.19882717C>A	GRCh37
NC_000022.9:g.18262717C>A	NCBI36
NG_011835.1:g.51643G>T , LRG_417:g.51643G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000400521.7:c.949+213G>T MANE Select	ENSP00000383365.1:n.949+213G>T
ENST00000334363.14:c.956G>T	ENSP00000334451.9:p.Cys319Phe
ENST00000400518.5:c.859+213G>T	ENSP00000383362.1:n.859+213G>T
ENST00000400519.6:c.946+213G>T	ENSP00000383363.1:n.946+213G>T
ENST00000400521.6:c.949+213G>T	ENSP00000383365.1:n.949+213G>T
ENST00000400525.6:c.880+213G>T	ENSP00000383369.3:n.880+213G>T
ENST00000474308.5:c.892+213G>T	ENSP00000485665.1:n.892+213G>T
ENST00000475995.3:c.573G>T
ENST00000491939.6:c.860G>T	ENSP00000485543.1:p.Cys287Phe
ENST00000494454.5:n.1023+213G>T
ENST00000542719.6:c.661+213G>T	ENSP00000485128.2:n.661+213G>T
ENST00000634537.1:c.178+213G>T	ENSP00000489208.1:n.178+213G>T
ENST00000635155.1:n.535+213G>T
NM_001282512.1:c.956G>T	NP_001269441.1:p.Cys319Phe
NM_006440.4:c.949+213G>T	NP_006431.2:n.949+213G>T
NM_001282512.2:c.956G>T	NP_001269441.1:p.Cys319Phe
NM_001352300.1:c.946+213G>T	NP_001339229.1:n.946+213G>T
NM_001352301.1:c.859+213G>T	NP_001339230.1:n.859+213G>T
NM_001352302.1:c.661+213G>T	NP_001339231.1:n.661+213G>T
NM_001352303.1:c.860G>T	NP_001339232.1:p.Cys287Phe
NR_147957.1:n.1081+213G>T
NM_006440.5:c.949+213G>T MANE Select	NP_006431.2:n.949+213G>T
NM_001282512.3:c.956G>T	NP_001269441.1:p.Cys319Phe
NM_001352300.2:c.946+213G>T	NP_001339229.1:n.946+213G>T
NR_147957.2:n.907+213G>T
NM_001352301.2:c.859+213G>T	NP_001339230.1:n.859+213G>T
NM_001352302.2:c.661+213G>T	NP_001339231.1:n.661+213G>T
NM_001352303.2:c.860G>T	NP_001339232.1:p.Cys287Phe