Canonical Allele Identifier: CA022244

Gene: DSG2

Linked Data

• ClinVar Variation Id: 44326
• ClinVar RCV Id: RCV000037314 ; RCV000621582 ; RCV000766364 ; RCV001086638 ; RCV001186663 ; RCV001293112
• dbSNP Id: rs200997703
• ExAC: 18:29104436 T / C
• gnomAD v2: 18-29104436-T-C
• gnomAD v3: 18-31524473-T-C
• gnomAD v4: 18-31524473-T-C
• MyVariant Identifiers: chr18:g.29104436T>C (hg19) ; chr18:g.31524473T>C (hg38)
• PubMed: PMID:21606390 ; PMID:23299917

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31524473T>C , CM000680.2:g.31524473T>C	GRCh38
NC_000018.9:g.29104436T>C , CM000680.1:g.29104436T>C	GRCh37
NC_000018.8:g.27358434T>C	NCBI36
NG_007072.3:g.31232T>C , LRG_397:g.31232T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000682087.2:n.547T>C
ENST00000683614.2:n.547T>C
ENST00000682087.1:c.547T>C
ENST00000683614.1:c.547T>C
ENST00000261590.13:c.716T>C MANE Select	ENSP00000261590.8:p.Val239Ala
ENST00000261590.12:c.716T>C	ENSP00000261590.8:p.Val239Ala
NM_001943.3:c.716T>C , LRG_397t1:c.716T>C	NP_001934.2:p.Val239Ala
NM_001943.4:c.716T>C	NP_001934.2:p.Val239Ala
XM_024451095.1:c.182T>C	XP_024306863.1:p.Val61Ala
NM_001943.5:c.716T>C MANE Select	NP_001934.2:p.Val239Ala