Canonical Allele Identifier: CA297713102

Gene: DSG2

Linked Data

• ClinVar Variation Id: 510690
• ClinVar RCV Id: RCV000772685 ; RCV001707780 ; RCV002420617
• dbSNP Id: rs1012160082
• gnomAD v3: 18-31498251-G-C
• gnomAD v4: 18-31498251-G-C
• MyVariant Identifiers: chr18:g.29078214G>C (hg19) ; chr18:g.31498251G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31498251G>C , CM000680.2:g.31498251G>C	GRCh38
NC_000018.9:g.29078214G>C , CM000680.1:g.29078214G>C	GRCh37
NC_000018.8:g.27332212G>C	NCBI36
NG_007072.3:g.5010G>C , LRG_397:g.5010G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682241.2:c.-1G>C	ENSP00000507600.2:n.-1G>C
ENST00000683654.1:c.-1G>C	ENSP00000506971.1:n.-1G>C
ENST00000261590.13:c.-1G>C MANE Select	ENSP00000261590.8:n.-1G>C
ENST00000261590.12:c.-1G>C	ENSP00000261590.8:n.-1G>C
ENST00000585206.1:c.-1G>C	ENSP00000462503.1:n.-1G>C
NM_001943.3:c.-1G>C , LRG_397t1:c.-1G>C	NP_001934.2:n.-1G>C
NM_001943.4:c.-1G>C	NP_001934.2:n.-1G>C
NM_001943.5:c.-1G>C MANE Select	NP_001934.2:n.-1G>C