Canonical Allele Identifier: CA503598120

Gene: DSG2

Linked Data

• COSMIC: COSM5387994
• MyVariant Identifiers: chr18:g.29102096C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31522133C>T , CM000680.2:g.31522133C>T	GRCh38
NC_000018.9:g.29102096C>T , CM000680.1:g.29102096C>T	GRCh37
NC_000018.8:g.27356094C>T	NCBI36
NG_007072.3:g.28892C>T , LRG_397:g.28892C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682087.2:n.405C>T
ENST00000682241.2:c.574C>T	ENSP00000507600.2:p.Leu192=
ENST00000683614.2:n.405C>T
ENST00000682087.1:c.405C>T
ENST00000682241.1:c.405C>T
ENST00000683614.1:c.405C>T
ENST00000683654.1:c.574C>T	ENSP00000506971.1:p.Leu192=
ENST00000684461.1:n.1244C>T
ENST00000261590.13:c.574C>T MANE Select	ENSP00000261590.8:p.Leu192=
ENST00000261590.12:c.574C>T	ENSP00000261590.8:p.Leu192=
ENST00000585206.1:c.574C>T	ENSP00000462503.1:p.Leu192=
NM_001943.3:c.574C>T , LRG_397t1:c.574C>T	NP_001934.2:p.Leu192=
NM_001943.4:c.574C>T	NP_001934.2:p.Leu192=
XM_024451095.1:c.40C>T	XP_024306863.1:p.Leu14=
NM_001943.5:c.574C>T MANE Select	NP_001934.2:p.Leu192=