Canonical Allele Identifier: CA402134151

Gene: DSG2

Linked Data

• ClinVar Variation Id: 2775213
• ClinVar RCV Id: RCV003533628
• MyVariant Identifiers: chr18:g.29102210G>A (hg19) ; chr18:g.31522247G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31522247G>A , CM000680.2:g.31522247G>A	GRCh38
NC_000018.9:g.29102210G>A , CM000680.1:g.29102210G>A	GRCh37
NC_000018.8:g.27356208G>A	NCBI36
NG_007072.3:g.29006G>A , LRG_397:g.29006G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682087.2:n.519G>A
ENST00000682241.2:c.688G>A	ENSP00000507600.2:p.Glu230Lys
ENST00000683614.2:n.519G>A
ENST00000682087.1:c.519G>A
ENST00000682241.1:c.519G>A
ENST00000683614.1:c.519G>A
ENST00000683654.1:c.688G>A	ENSP00000506971.1:p.Glu230Lys
ENST00000684461.1:n.1358G>A
ENST00000261590.13:c.688G>A MANE Select	ENSP00000261590.8:p.Glu230Lys
ENST00000261590.12:c.688G>A	ENSP00000261590.8:p.Glu230Lys
ENST00000585206.1:c.688G>A	ENSP00000462503.1:p.Glu230Lys
NM_001943.3:c.688G>A , LRG_397t1:c.688G>A	NP_001934.2:p.Glu230Lys
NM_001943.4:c.688G>A	NP_001934.2:p.Glu230Lys
XM_024451095.1:c.154G>A	XP_024306863.1:p.Glu52Lys
NM_001943.5:c.688G>A MANE Select	NP_001934.2:p.Glu230Lys