Canonical Allele Identifier: CA402133737

Gene: DSG2

Linked Data

• ClinVar Variation Id: 1751995
• ClinVar RCV Id: RCV002353702
• gnomAD v4: 18-31522175-G-A
• MyVariant Identifiers: chr18:g.29102138G>A (hg19) ; chr18:g.31522175G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31522175G>A , CM000680.2:g.31522175G>A	GRCh38
NC_000018.9:g.29102138G>A , CM000680.1:g.29102138G>A	GRCh37
NC_000018.8:g.27356136G>A	NCBI36
NG_007072.3:g.28934G>A , LRG_397:g.28934G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000682087.2:n.447G>A
ENST00000682241.2:c.616G>A	ENSP00000507600.2:p.Ala206Thr
ENST00000683614.2:n.447G>A
ENST00000682087.1:c.447G>A
ENST00000682241.1:c.447G>A
ENST00000683614.1:c.447G>A
ENST00000683654.1:c.616G>A	ENSP00000506971.1:p.Ala206Thr
ENST00000684461.1:n.1286G>A
ENST00000261590.13:c.616G>A MANE Select	ENSP00000261590.8:p.Ala206Thr
ENST00000261590.12:c.616G>A	ENSP00000261590.8:p.Ala206Thr
ENST00000585206.1:c.616G>A	ENSP00000462503.1:p.Ala206Thr
NM_001943.3:c.616G>A , LRG_397t1:c.616G>A	NP_001934.2:p.Ala206Thr
NM_001943.4:c.616G>A	NP_001934.2:p.Ala206Thr
XM_024451095.1:c.82G>A	XP_024306863.1:p.Ala28Thr
NM_001943.5:c.616G>A MANE Select	NP_001934.2:p.Ala206Thr