Canonical Allele Identifier: CA044571

Gene: DSG2

Linked Data

• dbSNP Id: rs201218279
• ExAC: 18:29121317 G / A
• gnomAD v2: 18-29121317-G-A
• gnomAD v3: 18-31541354-G-A
• gnomAD v4: 18-31541354-G-A
• MyVariant Identifiers: chr18:g.29121317G>A (hg19) ; chr18:g.31541354G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31541354G>A , CM000680.2:g.31541354G>A	GRCh38
NC_000018.9:g.29121317G>A , CM000680.1:g.29121317G>A	GRCh37
NC_000018.8:g.27375315G>A	NCBI36
NG_007072.3:g.48113G>A , LRG_397:g.48113G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261590.13:c.2001+40G>A MANE Select	ENSP00000261590.8:n.2001+40G>A
ENST00000261590.12:c.2001+40G>A	ENSP00000261590.8:n.2001+40G>A
NM_001943.3:c.2001+40G>A , LRG_397t1:c.2001+40G>A	NP_001934.2:n.2001+40G>A
NM_001943.4:c.2001+40G>A	NP_001934.2:n.2001+40G>A
XM_024451095.1:c.1467+40G>A	XP_024306863.1:n.1467+40G>A
NM_001943.5:c.2001+40G>A MANE Select	NP_001934.2:n.2001+40G>A