Canonical Allele Identifier: CA503765991

Gene: DSG2 DSG2-AS1

Linked Data

• ClinVar Variation Id: 925679
• ClinVar RCV Id: RCV001187764
• dbSNP Id: rs2073276946
• MyVariant Identifiers: chr18:g.29122695T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31542732T>G , CM000680.2:g.31542732T>G	GRCh38
NC_000018.9:g.29122695T>G , CM000680.1:g.29122695T>G	GRCh37
NC_000018.8:g.27376693T>G	NCBI36
NG_007072.3:g.49491T>G , LRG_397:g.49491T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261590.13:c.2214T>G (DSG2) MANE Select	ENSP00000261590.8:p.Ala738=
ENST00000261590.12:c.2214T>G (DSG2)	ENSP00000261590.8:p.Ala738=
NM_001943.3:c.2214T>G , LRG_397t1:c.2214T>G (DSG2)	NP_001934.2:p.Ala738=
NR_045216.1:n.1810+370A>C (DSG2-AS1)
NM_001943.4:c.2214T>G (DSG2)	NP_001934.2:p.Ala738=
XM_024451095.1:c.1680T>G (DSG2)	XP_024306863.1:p.Ala560=
NM_001943.5:c.2214T>G (DSG2) MANE Select	NP_001934.2:p.Ala738=