Canonical Allele Identifier: CA638367401

Gene: TXNRD2

Linked Data

• dbSNP Id: rs1439545829
• gnomAD v2: 22-19906249-CAG-C
• gnomAD v3: 22-19918726-CAG-C
• gnomAD v4: 22-19918726-CAG-C
• MyVariant Identifiers: chr22:g.19906250_19906251del (hg19) ; chr22:g.19918727_19918728del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19918729_19918730del , CM000684.2:g.19918729_19918730del	GRCh38
NC_000022.10:g.19906252_19906253del , CM000684.1:g.19906252_19906253del	GRCh37
NC_000022.9:g.18286252_18286253del	NCBI36
NG_011835.1:g.28109_28110del , LRG_417:g.28109_28110del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000400521.7:c.374+132_374+133del MANE Select	ENSP00000383365.1:n.374+132_374+133del
ENST00000334363.14:c.374+132_374+133del	ENSP00000334451.9:n.374+132_374+133del
ENST00000400518.5:c.284+132_284+133del	ENSP00000383362.1:n.284+132_284+133del
ENST00000400519.6:c.371+132_371+133del	ENSP00000383363.1:n.371+132_371+133del
ENST00000400521.6:c.374+132_374+133del	ENSP00000383365.1:n.374+132_374+133del
ENST00000400525.6:c.305+132_305+133del	ENSP00000383369.3:n.305+132_305+133del
ENST00000474308.5:c.317+132_317+133del	ENSP00000485665.1:n.317+132_317+133del
ENST00000491939.6:c.278+132_278+133del	ENSP00000485543.1:n.278+132_278+133del
ENST00000496729.2:n.379+132_379+133del
ENST00000542719.6:c.86+132_86+133del	ENSP00000485128.2:n.86+132_86+133del
NM_001282512.1:c.374+132_374+133del	NP_001269441.1:n.374+132_374+133del
NM_006440.4:c.374+132_374+133del	NP_006431.2:n.374+132_374+133del
NM_001282512.2:c.374+132_374+133del	NP_001269441.1:n.374+132_374+133del
NM_001352300.1:c.371+132_371+133del	NP_001339229.1:n.371+132_371+133del
NM_001352301.1:c.284+132_284+133del	NP_001339230.1:n.284+132_284+133del
NM_001352302.1:c.86+132_86+133del	NP_001339231.1:n.86+132_86+133del
NM_001352303.1:c.278+132_278+133del	NP_001339232.1:n.278+132_278+133del
NR_147957.1:n.506+132_506+133del
NM_006440.5:c.374+132_374+133del MANE Select	NP_006431.2:n.374+132_374+133del
NM_001282512.3:c.374+132_374+133del	NP_001269441.1:n.374+132_374+133del
NM_001352300.2:c.371+132_371+133del	NP_001339229.1:n.371+132_371+133del
NR_147957.2:n.332+132_332+133del
NM_001352301.2:c.284+132_284+133del	NP_001339230.1:n.284+132_284+133del
NM_001352302.2:c.86+132_86+133del	NP_001339231.1:n.86+132_86+133del
NM_001352303.2:c.278+132_278+133del	NP_001339232.1:n.278+132_278+133del