Canonical Allele Identifier: CA402139763

Gene: DSG2

Linked Data

• ClinVar Variation Id: 2563311
• ClinVar RCV Id: RCV003301472
• MyVariant Identifiers: chr18:g.29121246G>A (hg19) ; chr18:g.31541283G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31541283G>A , CM000680.2:g.31541283G>A	GRCh38
NC_000018.9:g.29121246G>A , CM000680.1:g.29121246G>A	GRCh37
NC_000018.8:g.27375244G>A	NCBI36
NG_007072.3:g.48042G>A , LRG_397:g.48042G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261590.13:c.1970G>A MANE Select	ENSP00000261590.8:p.Trp657Ter
ENST00000261590.12:c.1970G>A	ENSP00000261590.8:p.Trp657Ter
NM_001943.3:c.1970G>A , LRG_397t1:c.1970G>A	NP_001934.2:p.Trp657Ter
NM_001943.4:c.1970G>A	NP_001934.2:p.Trp657Ter
XM_024451095.1:c.1436G>A	XP_024306863.1:p.Trp479Ter
NM_001943.5:c.1970G>A MANE Select	NP_001934.2:p.Trp657Ter