Canonical Allele Identifier: CA410686626

Gene: TXNRD2

Linked Data

• MyVariant Identifiers: chr22:g.19883020G>T (hg19) ; chr22:g.19895497G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19895497G>T , CM000684.2:g.19895497G>T	GRCh38
NC_000022.10:g.19883020G>T , CM000684.1:g.19883020G>T	GRCh37
NC_000022.9:g.18263020G>T	NCBI36
NG_011835.1:g.51340C>A , LRG_417:g.51340C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000400521.7:c.859C>A MANE Select	ENSP00000383365.1:p.Leu287Ile
ENST00000334363.14:c.859C>A	ENSP00000334451.9:p.Leu287Ile
ENST00000400518.5:c.769C>A	ENSP00000383362.1:p.Leu257Ile
ENST00000400519.6:c.856C>A	ENSP00000383363.1:p.Leu286Ile
ENST00000400521.6:c.859C>A	ENSP00000383365.1:p.Leu287Ile
ENST00000400525.6:c.790C>A	ENSP00000383369.3:p.Leu264Ile
ENST00000474308.5:c.802C>A	ENSP00000485665.1:p.Leu268Ile
ENST00000475995.3:c.356C>A
ENST00000491939.6:c.763C>A	ENSP00000485543.1:p.Leu255Ile
ENST00000494454.5:n.933C>A
ENST00000542719.6:c.571C>A	ENSP00000485128.2:p.Leu191Ile
ENST00000634537.1:c.88C>A	ENSP00000489208.1:p.Leu30Ile
ENST00000635155.1:n.445C>A
NM_001282512.1:c.859C>A	NP_001269441.1:p.Leu287Ile
NM_006440.4:c.859C>A	NP_006431.2:p.Leu287Ile
NM_001282512.2:c.859C>A	NP_001269441.1:p.Leu287Ile
NM_001352300.1:c.856C>A	NP_001339229.1:p.Leu286Ile
NM_001352301.1:c.769C>A	NP_001339230.1:p.Leu257Ile
NM_001352302.1:c.571C>A	NP_001339231.1:p.Leu191Ile
NM_001352303.1:c.763C>A	NP_001339232.1:p.Leu255Ile
NR_147957.1:n.991C>A
NM_006440.5:c.859C>A MANE Select	NP_006431.2:p.Leu287Ile
NM_001282512.3:c.859C>A	NP_001269441.1:p.Leu287Ile
NM_001352300.2:c.856C>A	NP_001339229.1:p.Leu286Ile
NR_147957.2:n.817C>A
NM_001352301.2:c.769C>A	NP_001339230.1:p.Leu257Ile
NM_001352302.2:c.571C>A	NP_001339231.1:p.Leu191Ile
NM_001352303.2:c.763C>A	NP_001339232.1:p.Leu255Ile