Canonical Allele Identifier: CA402135630

Gene: DSG2

Linked Data

• ClinVar Variation Id: 1519487
• ClinVar RCV Id: RCV002024645
• dbSNP Id: rs1402723514
• gnomAD v4: 18-31524778-G-A
• MyVariant Identifiers: chr18:g.29104741G>A (hg19) ; chr18:g.31524778G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31524778G>A , CM000680.2:g.31524778G>A	GRCh38
NC_000018.9:g.29104741G>A , CM000680.1:g.29104741G>A	GRCh37
NC_000018.8:g.27358739G>A	NCBI36
NG_007072.3:g.31537G>A , LRG_397:g.31537G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000682087.2:n.735G>A
ENST00000683614.2:n.735G>A
ENST00000682087.1:c.735G>A
ENST00000683614.1:c.735G>A
ENST00000261590.13:c.904G>A MANE Select	ENSP00000261590.8:p.Gly302Ser
ENST00000261590.12:c.904G>A	ENSP00000261590.8:p.Gly302Ser
NM_001943.3:c.904G>A , LRG_397t1:c.904G>A	NP_001934.2:p.Gly302Ser
NM_001943.4:c.904G>A	NP_001934.2:p.Gly302Ser
XM_024451095.1:c.370G>A	XP_024306863.1:p.Gly124Ser
NM_001943.5:c.904G>A MANE Select	NP_001934.2:p.Gly302Ser