Canonical Allele Identifier: CA042679

Gene: DSG2

Linked Data

• ClinVar Variation Id: 496147
• ClinVar RCV Id: RCV000588536 ; RCV000619285 ; RCV001853986
• dbSNP Id: rs530517936
• ExAC: 18:29078228 C / T
• gnomAD v2: 18-29078228-C-T
• gnomAD v3: 18-31498265-C-T
• gnomAD v4: 18-31498265-C-T
• MyVariant Identifiers: chr18:g.29078228C>T (hg19) ; chr18:g.31498265C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31498265C>T , CM000680.2:g.31498265C>T	GRCh38
NC_000018.9:g.29078228C>T , CM000680.1:g.29078228C>T	GRCh37
NC_000018.8:g.27332226C>T	NCBI36
NG_007072.3:g.5024C>T , LRG_397:g.5024C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682241.2:c.14C>T	ENSP00000507600.2:p.Pro5Leu
ENST00000683654.1:c.14C>T	ENSP00000506971.1:p.Pro5Leu
ENST00000261590.13:c.14C>T MANE Select	ENSP00000261590.8:p.Pro5Leu
ENST00000261590.12:c.14C>T	ENSP00000261590.8:p.Pro5Leu
ENST00000585206.1:c.14C>T	ENSP00000462503.1:p.Pro5Leu
NM_001943.3:c.14C>T , LRG_397t1:c.14C>T	NP_001934.2:p.Pro5Leu
NM_001943.4:c.14C>T	NP_001934.2:p.Pro5Leu
NM_001943.5:c.14C>T MANE Select	NP_001934.2:p.Pro5Leu