Canonical Allele Identifier: CA503765841

Gene: DSG2

Linked Data

• MyVariant Identifiers: chr18:g.29111111C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31531148C>G , CM000680.2:g.31531148C>G	GRCh38
NC_000018.9:g.29111111C>G , CM000680.1:g.29111111C>G	GRCh37
NC_000018.8:g.27365109C>G	NCBI36
NG_007072.3:g.37907C>G , LRG_397:g.37907C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683614.2:n.1007C>G
ENST00000683614.1:c.1007C>G
ENST00000261590.13:c.1176C>G MANE Select	ENSP00000261590.8:p.Val392=
ENST00000261590.12:c.1176C>G	ENSP00000261590.8:p.Val392=
NM_001943.3:c.1176C>G , LRG_397t1:c.1176C>G	NP_001934.2:p.Val392=
NM_001943.4:c.1176C>G	NP_001934.2:p.Val392=
XM_024451095.1:c.642C>G	XP_024306863.1:p.Val214=
NM_001943.5:c.1176C>G MANE Select	NP_001934.2:p.Val392=