Canonical Allele Identifier: CA021308

Gene: DSG2

Linked Data

• ClinVar Variation Id: 178664
• ClinVar RCV Id: RCV000155421 ; RCV000586426 ; RCV001188623
• dbSNP Id: rs727504450
• gnomAD v3: 18-31498241-G-A
• gnomAD v4: 18-31498241-G-A
• MyVariant Identifiers: chr18:g.29078204G>A (hg19) ; chr18:g.31498241G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31498241G>A , CM000680.2:g.31498241G>A	GRCh38
NC_000018.9:g.29078204G>A , CM000680.1:g.29078204G>A	GRCh37
NC_000018.8:g.27332202G>A	NCBI36
NG_007072.3:g.5000G>A , LRG_397:g.5000G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682241.2:c.-11G>A	ENSP00000507600.2:n.-11G>A
ENST00000261590.13:c.-11G>A MANE Select	ENSP00000261590.8:n.-11G>A
ENST00000261590.12:c.-11G>A	ENSP00000261590.8:n.-11G>A
ENST00000585206.1:c.-11G>A	ENSP00000462503.1:n.-11G>A
NM_001943.3:c.-11G>A , LRG_397t1:c.-11G>A	NP_001934.2:n.-11G>A
NM_001943.4:c.-11G>A	NP_001934.2:n.-11G>A
NM_001943.5:c.-11G>A MANE Select	NP_001934.2:n.-11G>A