Canonical Allele Identifier: CA638367411

Gene: TXNRD2

Linked Data

• dbSNP Id: rs1488294353
• gnomAD v2: 22-19906440-AG-A
• gnomAD v3: 22-19918917-AG-A
• gnomAD v4: 22-19918917-AG-A
• MyVariant Identifiers: chr22:g.19906441del (hg19) ; chr22:g.19918918del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19918919del , CM000684.2:g.19918919del	GRCh38
NC_000022.10:g.19906442del , CM000684.1:g.19906442del	GRCh37
NC_000022.9:g.18286442del	NCBI36
NG_011835.1:g.27919del , LRG_417:g.27919del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000400521.7:c.316del MANE Select	ENSP00000383365.1:p.Leu106Ter
ENST00000334363.14:c.316del	ENSP00000334451.9:p.Leu106Ter
ENST00000400518.5:c.226del	ENSP00000383362.1:p.Leu76Ter
ENST00000400519.6:c.313del	ENSP00000383363.1:p.Leu105Ter
ENST00000400521.6:c.316del	ENSP00000383365.1:p.Leu106Ter
ENST00000400525.6:c.247del	ENSP00000383369.3:p.Leu83Ter
ENST00000474308.5:c.259del	ENSP00000485665.1:p.Leu87Ter
ENST00000491939.6:c.220del	ENSP00000485543.1:p.Leu74Ter
ENST00000496729.2:n.321del
ENST00000542719.6:c.28del	ENSP00000485128.2:p.Leu10Ter
NM_001282512.1:c.316del	NP_001269441.1:p.Leu106Ter
NM_006440.4:c.316del	NP_006431.2:p.Leu106Ter
NM_001282512.2:c.316del	NP_001269441.1:p.Leu106Ter
NM_001352300.1:c.313del	NP_001339229.1:p.Leu105Ter
NM_001352301.1:c.226del	NP_001339230.1:p.Leu76Ter
NM_001352302.1:c.28del	NP_001339231.1:p.Leu10Ter
NM_001352303.1:c.220del	NP_001339232.1:p.Leu74Ter
NR_147957.1:n.448del
NM_006440.5:c.316del MANE Select	NP_006431.2:p.Leu106Ter
NM_001282512.3:c.316del	NP_001269441.1:p.Leu106Ter
NM_001352300.2:c.313del	NP_001339229.1:p.Leu105Ter
NR_147957.2:n.274del
NM_001352301.2:c.226del	NP_001339230.1:p.Leu76Ter
NM_001352302.2:c.28del	NP_001339231.1:p.Leu10Ter
NM_001352303.2:c.220del	NP_001339232.1:p.Leu74Ter