Canonical Allele Identifier: CA503598187

Gene: DSG2

Linked Data

• ClinVar Variation Id: 1609052
• ClinVar RCV Id: RCV002155154
• dbSNP Id: rs1275487240
• MyVariant Identifiers: chr18:g.29102146T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31522183T>A , CM000680.2:g.31522183T>A	GRCh38
NC_000018.9:g.29102146T>A , CM000680.1:g.29102146T>A	GRCh37
NC_000018.8:g.27356144T>A	NCBI36
NG_007072.3:g.28942T>A , LRG_397:g.28942T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682087.2:n.455T>A
ENST00000682241.2:c.624T>A	ENSP00000507600.2:p.Pro208=
ENST00000683614.2:n.455T>A
ENST00000682087.1:c.455T>A
ENST00000682241.1:c.455T>A
ENST00000683614.1:c.455T>A
ENST00000683654.1:c.624T>A	ENSP00000506971.1:p.Pro208=
ENST00000684461.1:n.1294T>A
ENST00000261590.13:c.624T>A MANE Select	ENSP00000261590.8:p.Pro208=
ENST00000261590.12:c.624T>A	ENSP00000261590.8:p.Pro208=
ENST00000585206.1:c.624T>A	ENSP00000462503.1:p.Pro208=
NM_001943.3:c.624T>A , LRG_397t1:c.624T>A	NP_001934.2:p.Pro208=
NM_001943.4:c.624T>A	NP_001934.2:p.Pro208=
XM_024451095.1:c.90T>A	XP_024306863.1:p.Pro30=
NM_001943.5:c.624T>A MANE Select	NP_001934.2:p.Pro208=