Canonical Allele Identifier: CA022366

Gene: DSG2

Linked Data

• ClinVar Variation Id: 179897
• ClinVar RCV Id: RCV000156698 ; RCV001296337
• dbSNP Id: rs727505205
• ExAC: 18:29099782 A / C
• gnomAD v2: 18-29099782-A-C
• gnomAD v3: 18-31519819-A-C
• gnomAD v4: 18-31519819-A-C
• MyVariant Identifiers: chr18:g.29099782A>C (hg19) ; chr18:g.31519819A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31519819A>C , CM000680.2:g.31519819A>C	GRCh38
NC_000018.9:g.29099782A>C , CM000680.1:g.29099782A>C	GRCh37
NC_000018.8:g.27353780A>C	NCBI36
NG_007072.3:g.26578A>C , LRG_397:g.26578A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000682241.2:c.98A>C	ENSP00000507600.2:p.Asn33Thr
ENST00000683654.1:c.98A>C	ENSP00000506971.1:p.Asn33Thr
ENST00000261590.13:c.98A>C MANE Select	ENSP00000261590.8:p.Asn33Thr
ENST00000261590.12:c.98A>C	ENSP00000261590.8:p.Asn33Thr
ENST00000585206.1:c.98A>C	ENSP00000462503.1:p.Asn33Thr
NM_001943.3:c.98A>C , LRG_397t1:c.98A>C	NP_001934.2:p.Asn33Thr
NM_001943.4:c.98A>C	NP_001934.2:p.Asn33Thr
XM_024451095.1:c.-437A>C	XP_024306863.1:n.-437A>C
NM_001943.5:c.98A>C MANE Select	NP_001934.2:p.Asn33Thr