Canonical Allele Identifier: CA503597276

Gene: DSG2

Linked Data

• ClinVar Variation Id: 1115233
• ClinVar RCV Id: RCV001443220
• dbSNP Id: rs2144316237
• MyVariant Identifiers: chr18:g.29101139C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31521176C>T , CM000680.2:g.31521176C>T	GRCh38
NC_000018.9:g.29101139C>T , CM000680.1:g.29101139C>T	GRCh37
NC_000018.8:g.27355137C>T	NCBI36
NG_007072.3:g.27935C>T , LRG_397:g.27935C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682087.2:n.287C>T
ENST00000682241.2:c.456C>T	ENSP00000507600.2:p.Ile152=
ENST00000683614.2:n.287C>T
ENST00000682087.1:c.287C>T
ENST00000682241.1:c.287C>T
ENST00000683614.1:c.287C>T
ENST00000683654.1:c.456C>T	ENSP00000506971.1:p.Ile152=
ENST00000684461.1:n.287C>T
ENST00000261590.13:c.456C>T MANE Select	ENSP00000261590.8:p.Ile152=
ENST00000261590.12:c.456C>T	ENSP00000261590.8:p.Ile152=
ENST00000585206.1:c.456C>T	ENSP00000462503.1:p.Ile152=
NM_001943.3:c.456C>T , LRG_397t1:c.456C>T	NP_001934.2:p.Ile152=
NM_001943.4:c.456C>T	NP_001934.2:p.Ile152=
XM_024451095.1:c.-79C>T	XP_024306863.1:n.-79C>T
NM_001943.5:c.456C>T MANE Select	NP_001934.2:p.Ile152=