Canonical Allele Identifier: CA021465

Gene: DSG2

Linked Data

• ClinVar Variation Id: 163210
• ClinVar RCV Id: RCV000150539 ; RCV000248864 ; RCV000460672 ; RCV000781971
• dbSNP Id: rs200509948
• ExAC: 18:29116291 C / T
• gnomAD v2: 18-29116291-C-T
• gnomAD v3: 18-31536328-C-T
• gnomAD v4: 18-31536328-C-T
• MyVariant Identifiers: chr18:g.29116291C>T (hg19) ; chr18:g.31536328C>T (hg38)
• PubMed: PMID:21220045 ; PMID:23861362

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31536328C>T , CM000680.2:g.31536328C>T	GRCh38
NC_000018.9:g.29116291C>T , CM000680.1:g.29116291C>T	GRCh37
NC_000018.8:g.27370289C>T	NCBI36
NG_007072.3:g.43087C>T , LRG_397:g.43087C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000261590.13:c.1550C>T MANE Select	ENSP00000261590.8:p.Ala517Val
ENST00000261590.12:c.1550C>T	ENSP00000261590.8:p.Ala517Val
NM_001943.3:c.1550C>T , LRG_397t1:c.1550C>T	NP_001934.2:p.Ala517Val
NM_001943.4:c.1550C>T	NP_001934.2:p.Ala517Val
XM_024451095.1:c.1016C>T	XP_024306863.1:p.Ala339Val
NM_001943.5:c.1550C>T MANE Select	NP_001934.2:p.Ala517Val