Canonical Allele Identifier: CA402142033

Gene: DSG2 DSG2-AS1

Linked Data

• ClinVar Variation Id: 1720870
• ClinVar RCV Id: RCV002300116 ; RCV004047697
• MyVariant Identifiers: chr18:g.29122620G>C (hg19) ; chr18:g.31542657G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31542657G>C , CM000680.2:g.31542657G>C	GRCh38
NC_000018.9:g.29122620G>C , CM000680.1:g.29122620G>C	GRCh37
NC_000018.8:g.27376618G>C	NCBI36
NG_007072.3:g.49416G>C , LRG_397:g.49416G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261590.13:c.2139G>C (DSG2) MANE Select	ENSP00000261590.8:p.Glu713Asp
ENST00000261590.12:c.2139G>C (DSG2)	ENSP00000261590.8:p.Glu713Asp
NM_001943.3:c.2139G>C , LRG_397t1:c.2139G>C (DSG2)	NP_001934.2:p.Glu713Asp
NR_045216.1:n.1811-336C>G (DSG2-AS1)
NM_001943.4:c.2139G>C (DSG2)	NP_001934.2:p.Glu713Asp
XM_024451095.1:c.1605G>C (DSG2)	XP_024306863.1:p.Glu535Asp
NM_001943.5:c.2139G>C (DSG2) MANE Select	NP_001934.2:p.Glu713Asp