Canonical Allele Identifier: CA402130541

Gene: DSG2

Linked Data

• ClinVar Variation Id: 1332567
• ClinVar RCV Id: RCV001805613
• dbSNP Id: rs2144313897
• gnomAD v4: 18-31519811-C-G
• MyVariant Identifiers: chr18:g.29099774C>G (hg19) ; chr18:g.31519811C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31519811C>G , CM000680.2:g.31519811C>G	GRCh38
NC_000018.9:g.29099774C>G , CM000680.1:g.29099774C>G	GRCh37
NC_000018.8:g.27353772C>G	NCBI36
NG_007072.3:g.26570C>G , LRG_397:g.26570C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682241.2:c.90C>G	ENSP00000507600.2:p.Ser30Arg
ENST00000683654.1:c.90C>G	ENSP00000506971.1:p.Ser30Arg
ENST00000261590.13:c.90C>G MANE Select	ENSP00000261590.8:p.Ser30Arg
ENST00000261590.12:c.90C>G	ENSP00000261590.8:p.Ser30Arg
ENST00000585206.1:c.90C>G	ENSP00000462503.1:p.Ser30Arg
NM_001943.3:c.90C>G , LRG_397t1:c.90C>G	NP_001934.2:p.Ser30Arg
NM_001943.4:c.90C>G	NP_001934.2:p.Ser30Arg
XM_024451095.1:c.-445C>G	XP_024306863.1:n.-445C>G
NM_001943.5:c.90C>G MANE Select	NP_001934.2:p.Ser30Arg