Canonical Allele Identifier: CA513369096

Gene: TXNRD2

Linked Data

• dbSNP Id: rs1339044313
• gnomAD v2: 22-19906484-G-A
• gnomAD v4: 22-19918961-G-A
• MyVariant Identifiers: chr22:g.19906484G>A (hg19) ; chr22:g.19918961G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19918961G>A , CM000684.2:g.19918961G>A	GRCh38
NC_000022.10:g.19906484G>A , CM000684.1:g.19906484G>A	GRCh37
NC_000022.9:g.18286484G>A	NCBI36
NG_011835.1:g.27876C>T , LRG_417:g.27876C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000400521.7:c.273C>T MANE Select	ENSP00000383365.1:p.Cys91=
ENST00000334363.14:c.273C>T	ENSP00000334451.9:p.Cys91=
ENST00000400518.5:c.183C>T	ENSP00000383362.1:p.Cys61=
ENST00000400519.6:c.270C>T	ENSP00000383363.1:p.Cys90=
ENST00000400521.6:c.273C>T	ENSP00000383365.1:p.Cys91=
ENST00000400525.6:c.204C>T	ENSP00000383369.3:p.Cys68=
ENST00000474308.5:c.216C>T	ENSP00000485665.1:p.Cys72=
ENST00000491939.6:c.177C>T	ENSP00000485543.1:p.Cys59=
ENST00000496729.2:n.278C>T
ENST00000542719.6:c.-16C>T	ENSP00000485128.2:n.-16C>T
NM_001282512.1:c.273C>T	NP_001269441.1:p.Cys91=
NM_006440.4:c.273C>T	NP_006431.2:p.Cys91=
NM_001282512.2:c.273C>T	NP_001269441.1:p.Cys91=
NM_001352300.1:c.270C>T	NP_001339229.1:p.Cys90=
NM_001352301.1:c.183C>T	NP_001339230.1:p.Cys61=
NM_001352302.1:c.-16C>T	NP_001339231.1:n.-16C>T
NM_001352303.1:c.177C>T	NP_001339232.1:p.Cys59=
NR_147957.1:n.405C>T
NM_006440.5:c.273C>T MANE Select	NP_006431.2:p.Cys91=
NM_001282512.3:c.273C>T	NP_001269441.1:p.Cys91=
NM_001352300.2:c.270C>T	NP_001339229.1:p.Cys90=
NR_147957.2:n.231C>T
NM_001352301.2:c.183C>T	NP_001339230.1:p.Cys61=
NM_001352302.2:c.-16C>T	NP_001339231.1:n.-16C>T
NM_001352303.2:c.177C>T	NP_001339232.1:p.Cys59=