Canonical Allele Identifier: CA402130782

Gene: DSG2

Linked Data

• ClinVar Variation Id: 466331
• ClinVar RCV Id: RCV000526721
• dbSNP Id: rs762526848
• MyVariant Identifiers: chr18:g.29099829C>A (hg19) ; chr18:g.31519866C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31519866C>A , CM000680.2:g.31519866C>A	GRCh38
NC_000018.9:g.29099829C>A , CM000680.1:g.29099829C>A	GRCh37
NC_000018.8:g.27353827C>A	NCBI36
NG_007072.3:g.26625C>A , LRG_397:g.26625C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000682241.2:c.145C>A	ENSP00000507600.2:p.Arg49Ser
ENST00000683654.1:c.145C>A	ENSP00000506971.1:p.Arg49Ser
ENST00000261590.13:c.145C>A MANE Select	ENSP00000261590.8:p.Arg49Ser
ENST00000261590.12:c.145C>A	ENSP00000261590.8:p.Arg49Ser
ENST00000585206.1:c.145C>A	ENSP00000462503.1:p.Arg49Ser
NM_001943.3:c.145C>A , LRG_397t1:c.145C>A	NP_001934.2:p.Arg49Ser
NM_001943.4:c.145C>A	NP_001934.2:p.Arg49Ser
XM_024451095.1:c.-390C>A	XP_024306863.1:n.-390C>A
NM_001943.5:c.145C>A MANE Select	NP_001934.2:p.Arg49Ser