Canonical Allele Identifier: CA503598189

Gene: DSG2

Linked Data

• ClinVar Variation Id: 696602
• ClinVar RCV Id: RCV001183373 ; RCV001462055 ; RCV004002925
• dbSNP Id: rs1275487240
• gnomAD v3: 18-31522183-T-G
• gnomAD v4: 18-31522183-T-G
• MyVariant Identifiers: chr18:g.29102146T>G (hg19) ; chr18:g.31522183T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31522183T>G , CM000680.2:g.31522183T>G	GRCh38
NC_000018.9:g.29102146T>G , CM000680.1:g.29102146T>G	GRCh37
NC_000018.8:g.27356144T>G	NCBI36
NG_007072.3:g.28942T>G , LRG_397:g.28942T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682087.2:n.455T>G
ENST00000682241.2:c.624T>G	ENSP00000507600.2:p.Pro208=
ENST00000683614.2:n.455T>G
ENST00000682087.1:c.455T>G
ENST00000682241.1:c.455T>G
ENST00000683614.1:c.455T>G
ENST00000683654.1:c.624T>G	ENSP00000506971.1:p.Pro208=
ENST00000684461.1:n.1294T>G
ENST00000261590.13:c.624T>G MANE Select	ENSP00000261590.8:p.Pro208=
ENST00000261590.12:c.624T>G	ENSP00000261590.8:p.Pro208=
ENST00000585206.1:c.624T>G	ENSP00000462503.1:p.Pro208=
NM_001943.3:c.624T>G , LRG_397t1:c.624T>G	NP_001934.2:p.Pro208=
NM_001943.4:c.624T>G	NP_001934.2:p.Pro208=
XM_024451095.1:c.90T>G	XP_024306863.1:p.Pro30=
NM_001943.5:c.624T>G MANE Select	NP_001934.2:p.Pro208=