Canonical Allele Identifier: CA638367465

Gene: TXNRD2

Linked Data

• dbSNP Id: rs1601456125
• gnomAD v2: 22-19906821-TGA-T
• gnomAD v3: 22-19919298-TGA-T
• gnomAD v4: 22-19919298-TGA-T
• MyVariant Identifiers: chr22:g.19906822_19906823del (hg19) ; chr22:g.19919299_19919300del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19919299_19919300del , CM000684.2:g.19919299_19919300del	GRCh38
NC_000022.10:g.19906822_19906823del , CM000684.1:g.19906822_19906823del	GRCh37
NC_000022.9:g.18286822_18286823del	NCBI36
NG_011835.1:g.27537_27538del , LRG_417:g.27537_27538del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000400521.7:c.229+243_229+244del MANE Select	ENSP00000383365.1:n.229+243_229+244del
ENST00000334363.14:c.229+243_229+244del	ENSP00000334451.9:n.229+243_229+244del
ENST00000400518.5:c.139+243_139+244del	ENSP00000383362.1:n.139+243_139+244del
ENST00000400519.6:c.226+243_226+244del	ENSP00000383363.1:n.226+243_226+244del
ENST00000400521.6:c.229+243_229+244del	ENSP00000383365.1:n.229+243_229+244del
ENST00000400525.6:c.160+243_160+244del	ENSP00000383369.3:n.160+243_160+244del
ENST00000474308.5:c.173-296_173-295del	ENSP00000485665.1:n.173-296_173-295del
ENST00000491939.6:c.133+243_133+244del	ENSP00000485543.1:n.133+243_133+244del
ENST00000496729.2:n.234+243_234+244del
ENST00000542719.6:c.-60+243_-60+244del	ENSP00000485128.2:n.-60+243_-60+244del
NM_001282512.1:c.229+243_229+244del	NP_001269441.1:n.229+243_229+244del
NM_006440.4:c.229+243_229+244del	NP_006431.2:n.229+243_229+244del
NM_001282512.2:c.229+243_229+244del	NP_001269441.1:n.229+243_229+244del
NM_001352300.1:c.226+243_226+244del	NP_001339229.1:n.226+243_226+244del
NM_001352301.1:c.139+243_139+244del	NP_001339230.1:n.139+243_139+244del
NM_001352302.1:c.-60+243_-60+244del	NP_001339231.1:n.-60+243_-60+244del
NM_001352303.1:c.133+243_133+244del	NP_001339232.1:n.133+243_133+244del
NR_147957.1:n.362-296_362-295del
NM_006440.5:c.229+243_229+244del MANE Select	NP_006431.2:n.229+243_229+244del
NM_001282512.3:c.229+243_229+244del	NP_001269441.1:n.229+243_229+244del
NM_001352300.2:c.226+243_226+244del	NP_001339229.1:n.226+243_226+244del
NR_147957.2:n.188-296_188-295del
NM_001352301.2:c.139+243_139+244del	NP_001339230.1:n.139+243_139+244del
NM_001352302.2:c.-60+243_-60+244del	NP_001339231.1:n.-60+243_-60+244del
NM_001352303.2:c.133+243_133+244del	NP_001339232.1:n.133+243_133+244del