Canonical Allele Identifier: CA050292

Gene: DSG2

Linked Data

• dbSNP Id: rs765049797
• ExAC: 18:29099769 T / TATTC
• gnomAD v2: 18-29099769-T-TATTC
• gnomAD v4: 18-31519806-T-TATTC
• MyVariant Identifiers: chr18:g.29099769_29099770insATTC (hg19) ; chr18:g.31519806_31519807insATTC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31519806_31519807insATTC , CM000680.2:g.31519806_31519807insATTC	GRCh38
NC_000018.9:g.29099769_29099770insATTC , CM000680.1:g.29099769_29099770insATTC	GRCh37
NC_000018.8:g.27353767_27353768insATTC	NCBI36
NG_007072.3:g.26565_26566insATTC , LRG_397:g.26565_26566insATTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682241.2:c.85_86insATTC	ENSP00000507600.2:p.Leu29TyrfsTer7
ENST00000683654.1:c.85_86insATTC	ENSP00000506971.1:p.Leu29TyrfsTer7
ENST00000261590.13:c.85_86insATTC MANE Select	ENSP00000261590.8:p.Leu29TyrfsTer7
ENST00000261590.12:c.85_86insATTC	ENSP00000261590.8:p.Leu29TyrfsTer7
ENST00000585206.1:c.85_86insATTC	ENSP00000462503.1:p.Leu29TyrfsTer7
NM_001943.3:c.85_86insATTC , LRG_397t1:c.85_86insATTC	NP_001934.2:p.Leu29TyrfsTer7
NM_001943.4:c.85_86insATTC	NP_001934.2:p.Leu29TyrfsTer7
XM_024451095.1:c.-450_-449insATTC	XP_024306863.1:n.-450_-449insATTC
NM_001943.5:c.85_86insATTC MANE Select	NP_001934.2:p.Leu29TyrfsTer7