Canonical Allele Identifier: CA638367449

Gene: TXNRD2

Linked Data

• dbSNP Id: rs1200434742
• gnomAD v2: 22-19906802-T-TC
• gnomAD v3: 22-19919279-T-TC
• gnomAD v4: 22-19919279-T-TC
• MyVariant Identifiers: chr22:g.19906802_19906803insC (hg19) ; chr22:g.19919279_19919280insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19919280dup , CM000684.2:g.19919280dup	GRCh38
NC_000022.10:g.19906803dup , CM000684.1:g.19906803dup	GRCh37
NC_000022.9:g.18286803dup	NCBI36
NG_011835.1:g.27557dup , LRG_417:g.27557dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000400521.7:c.229+263dup MANE Select	ENSP00000383365.1:n.229+263dup
ENST00000334363.14:c.229+263dup	ENSP00000334451.9:n.229+263dup
ENST00000400518.5:c.139+263dup	ENSP00000383362.1:n.139+263dup
ENST00000400519.6:c.226+263dup	ENSP00000383363.1:n.226+263dup
ENST00000400521.6:c.229+263dup	ENSP00000383365.1:n.229+263dup
ENST00000400525.6:c.160+263dup	ENSP00000383369.3:n.160+263dup
ENST00000474308.5:c.173-276dup	ENSP00000485665.1:n.173-276dup
ENST00000491939.6:c.133+263dup	ENSP00000485543.1:n.133+263dup
ENST00000496729.2:n.234+263dup
ENST00000542719.6:c.-60+263dup	ENSP00000485128.2:n.-60+263dup
NM_001282512.1:c.229+263dup	NP_001269441.1:n.229+263dup
NM_006440.4:c.229+263dup	NP_006431.2:n.229+263dup
NM_001282512.2:c.229+263dup	NP_001269441.1:n.229+263dup
NM_001352300.1:c.226+263dup	NP_001339229.1:n.226+263dup
NM_001352301.1:c.139+263dup	NP_001339230.1:n.139+263dup
NM_001352302.1:c.-60+263dup	NP_001339231.1:n.-60+263dup
NM_001352303.1:c.133+263dup	NP_001339232.1:n.133+263dup
NR_147957.1:n.362-276dup
NM_006440.5:c.229+263dup MANE Select	NP_006431.2:n.229+263dup
NM_001282512.3:c.229+263dup	NP_001269441.1:n.229+263dup
NM_001352300.2:c.226+263dup	NP_001339229.1:n.226+263dup
NR_147957.2:n.188-276dup
NM_001352301.2:c.139+263dup	NP_001339230.1:n.139+263dup
NM_001352302.2:c.-60+263dup	NP_001339231.1:n.-60+263dup
NM_001352303.2:c.133+263dup	NP_001339232.1:n.133+263dup