Canonical Allele Identifier: CA022227

Gene: DSG2

Linked Data

• ClinVar Variation Id: 137166
• ClinVar RCV Id: RCV000154701 ; RCV000245313 ; RCV001080998 ; RCV000757184 ; RCV000776121 ; RCV003915249 ; RCV003997428
• dbSNP Id: rs368809971
• ExAC: 18:29078220 G / A
• gnomAD v2: 18-29078220-G-A
• gnomAD v3: 18-31498257-G-A
• gnomAD v4: 18-31498257-G-A
• MyVariant Identifiers: chr18:g.29078220G>A (hg19) ; chr18:g.31498257G>A (hg38)
• PubMed: PMID:21397041

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31498257G>A , CM000680.2:g.31498257G>A	GRCh38
NC_000018.9:g.29078220G>A , CM000680.1:g.29078220G>A	GRCh37
NC_000018.8:g.27332218G>A	NCBI36
NG_007072.3:g.5016G>A , LRG_397:g.5016G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682241.2:c.6G>A	ENSP00000507600.2:p.Ala2=
ENST00000683654.1:c.6G>A	ENSP00000506971.1:p.Ala2=
ENST00000261590.13:c.6G>A MANE Select	ENSP00000261590.8:p.Ala2=
ENST00000261590.12:c.6G>A	ENSP00000261590.8:p.Ala2=
ENST00000585206.1:c.6G>A	ENSP00000462503.1:p.Ala2=
NM_001943.3:c.6G>A , LRG_397t1:c.6G>A	NP_001934.2:p.Ala2=
NM_001943.4:c.6G>A	NP_001934.2:p.Ala2=
NM_001943.5:c.6G>A MANE Select	NP_001934.2:p.Ala2=