Canonical Allele Identifier: CA050064

Gene: DSG2

Linked Data

• ClinVar Variation Id: 3075436
• ClinVar RCV Id: RCV004016954
• dbSNP Id: rs775464463
• ExAC: 18:29104540 A / G
• gnomAD v2: 18-29104540-A-G
• gnomAD v3: 18-31524577-A-G
• gnomAD v4: 18-31524577-A-G
• MyVariant Identifiers: chr18:g.29104540A>G (hg19) ; chr18:g.31524577A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31524577A>G , CM000680.2:g.31524577A>G	GRCh38
NC_000018.9:g.29104540A>G , CM000680.1:g.29104540A>G	GRCh37
NC_000018.8:g.27358538A>G	NCBI36
NG_007072.3:g.31336A>G , LRG_397:g.31336A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682087.2:n.651A>G
ENST00000683614.2:n.651A>G
ENST00000682087.1:c.651A>G
ENST00000683614.1:c.651A>G
ENST00000261590.13:c.820A>G MANE Select	ENSP00000261590.8:p.Asn274Asp
ENST00000261590.12:c.820A>G	ENSP00000261590.8:p.Asn274Asp
NM_001943.3:c.820A>G , LRG_397t1:c.820A>G	NP_001934.2:p.Asn274Asp
NM_001943.4:c.820A>G	NP_001934.2:p.Asn274Asp
XM_024451095.1:c.286A>G	XP_024306863.1:p.Asn96Asp
NM_001943.5:c.820A>G MANE Select	NP_001934.2:p.Asn274Asp