Canonical Allele Identifier: CA322097545

Gene: TXNRD2

Linked Data

• dbSNP Id: rs953198106
• gnomAD v3: 22-19892040-CTGTG-C
• gnomAD v4: 22-19892040-CTGTG-C
• MyVariant Identifiers: chr22:g.19879564_19879567del (hg19) ; chr22:g.19892041_19892044del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19892049_19892052del , CM000684.2:g.19892049_19892052del	GRCh38
NC_000022.10:g.19879572_19879575del , CM000684.1:g.19879572_19879575del	GRCh37
NC_000022.9:g.18259572_18259575del	NCBI36
NG_011835.1:g.54793_54796del , LRG_417:g.54793_54796del

Transcript Alleles

HGVS	Amino-acid change
ENST00000400521.7:c.949+3363_949+3366del MANE Select	ENSP00000383365.1:n.949+3363_949+3366del
ENST00000400518.5:c.859+3363_859+3366del	ENSP00000383362.1:n.859+3363_859+3366del
ENST00000400519.6:c.946+3363_946+3366del	ENSP00000383363.1:n.946+3363_946+3366del
ENST00000400521.6:c.949+3363_949+3366del	ENSP00000383365.1:n.949+3363_949+3366del
ENST00000400525.6:c.880+3363_880+3366del	ENSP00000383369.3:n.880+3363_880+3366del
ENST00000474308.5:c.892+3363_892+3366del	ENSP00000485665.1:n.892+3363_892+3366del
ENST00000494454.5:n.1023+3363_1023+3366del
ENST00000542719.6:c.661+3363_661+3366del	ENSP00000485128.2:n.661+3363_661+3366del
ENST00000634537.1:c.178+3363_178+3366del	ENSP00000489208.1:n.178+3363_178+3366del
ENST00000635155.1:n.536-284_536-281del
NM_006440.4:c.949+3363_949+3366del	NP_006431.2:n.949+3363_949+3366del
NM_001352300.1:c.946+3363_946+3366del	NP_001339229.1:n.946+3363_946+3366del
NM_001352301.1:c.859+3363_859+3366del	NP_001339230.1:n.859+3363_859+3366del
NM_001352302.1:c.661+3363_661+3366del	NP_001339231.1:n.661+3363_661+3366del
NR_147957.1:n.1081+3363_1081+3366del
NM_006440.5:c.949+3363_949+3366del MANE Select	NP_006431.2:n.949+3363_949+3366del
NM_001352300.2:c.946+3363_946+3366del	NP_001339229.1:n.946+3363_946+3366del
NR_147957.2:n.907+3363_907+3366del
NM_001352301.2:c.859+3363_859+3366del	NP_001339230.1:n.859+3363_859+3366del
NM_001352302.2:c.661+3363_661+3366del	NP_001339231.1:n.661+3363_661+3366del