Canonical Allele Identifier: CA503600739

Gene: DSG2

Linked Data

• ClinVar Variation Id: 3069971
• ClinVar RCV Id: RCV004010003
• MyVariant Identifiers: chr18:g.29116292A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31536329A>G , CM000680.2:g.31536329A>G	GRCh38
NC_000018.9:g.29116292A>G , CM000680.1:g.29116292A>G	GRCh37
NC_000018.8:g.27370290A>G	NCBI36
NG_007072.3:g.43088A>G , LRG_397:g.43088A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261590.13:c.1551A>G MANE Select	ENSP00000261590.8:p.Ala517=
ENST00000261590.12:c.1551A>G	ENSP00000261590.8:p.Ala517=
NM_001943.3:c.1551A>G , LRG_397t1:c.1551A>G	NP_001934.2:p.Ala517=
NM_001943.4:c.1551A>G	NP_001934.2:p.Ala517=
XM_024451095.1:c.1017A>G	XP_024306863.1:p.Ala339=
NM_001943.5:c.1551A>G MANE Select	NP_001934.2:p.Ala517=