Canonical Allele Identifier: CA410686280

Gene: TXNRD2

Linked Data

• MyVariant Identifiers: chr22:g.19882933T>G (hg19) ; chr22:g.19895410T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19895410T>G , CM000684.2:g.19895410T>G	GRCh38
NC_000022.10:g.19882933T>G , CM000684.1:g.19882933T>G	GRCh37
NC_000022.9:g.18262933T>G	NCBI36
NG_011835.1:g.51427A>C , LRG_417:g.51427A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000400521.7:c.946A>C MANE Select	ENSP00000383365.1:p.Ile316Leu
ENST00000334363.14:c.946A>C	ENSP00000334451.9:p.Ile316Leu
ENST00000400518.5:c.856A>C	ENSP00000383362.1:p.Ile286Leu
ENST00000400519.6:c.943A>C	ENSP00000383363.1:p.Ile315Leu
ENST00000400521.6:c.946A>C	ENSP00000383365.1:p.Ile316Leu
ENST00000400525.6:c.877A>C	ENSP00000383369.3:p.Ile293Leu
ENST00000474308.5:c.889A>C	ENSP00000485665.1:p.Ile297Leu
ENST00000475995.3:c.443A>C
ENST00000491939.6:c.850A>C	ENSP00000485543.1:p.Ile284Leu
ENST00000494454.5:n.1020A>C
ENST00000542719.6:c.658A>C	ENSP00000485128.2:p.Ile220Leu
ENST00000634537.1:c.175A>C	ENSP00000489208.1:p.Ile59Leu
ENST00000635155.1:n.532A>C
NM_001282512.1:c.946A>C	NP_001269441.1:p.Ile316Leu
NM_006440.4:c.946A>C	NP_006431.2:p.Ile316Leu
NM_001282512.2:c.946A>C	NP_001269441.1:p.Ile316Leu
NM_001352300.1:c.943A>C	NP_001339229.1:p.Ile315Leu
NM_001352301.1:c.856A>C	NP_001339230.1:p.Ile286Leu
NM_001352302.1:c.658A>C	NP_001339231.1:p.Ile220Leu
NM_001352303.1:c.850A>C	NP_001339232.1:p.Ile284Leu
NR_147957.1:n.1078A>C
NM_006440.5:c.946A>C MANE Select	NP_006431.2:p.Ile316Leu
NM_001282512.3:c.946A>C	NP_001269441.1:p.Ile316Leu
NM_001352300.2:c.943A>C	NP_001339229.1:p.Ile315Leu
NR_147957.2:n.904A>C
NM_001352301.2:c.856A>C	NP_001339230.1:p.Ile286Leu
NM_001352302.2:c.658A>C	NP_001339231.1:p.Ile220Leu
NM_001352303.2:c.850A>C	NP_001339232.1:p.Ile284Leu