Canonical Allele Identifier: CA402130442

Gene: DSG2

Linked Data

• ClinVar Variation Id: 927630
• ClinVar RCV Id: RCV001191026
• dbSNP Id: rs2073116488
• MyVariant Identifiers: chr18:g.29099764A>G (hg19) ; chr18:g.31519801A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31519801A>G , CM000680.2:g.31519801A>G	GRCh38
NC_000018.9:g.29099764A>G , CM000680.1:g.29099764A>G	GRCh37
NC_000018.8:g.27353762A>G	NCBI36
NG_007072.3:g.26560A>G , LRG_397:g.26560A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682241.2:c.82-2A>G	ENSP00000507600.2:n.82-2A>G
ENST00000683654.1:c.82-2A>G	ENSP00000506971.1:n.82-2A>G
ENST00000261590.13:c.82-2A>G MANE Select	ENSP00000261590.8:n.82-2A>G
ENST00000261590.12:c.82-2A>G	ENSP00000261590.8:n.82-2A>G
ENST00000585206.1:c.82-2A>G	ENSP00000462503.1:n.82-2A>G
NM_001943.3:c.82-2A>G , LRG_397t1:c.82-2A>G	NP_001934.2:n.82-2A>G
NM_001943.4:c.82-2A>G	NP_001934.2:n.82-2A>G
XM_024451095.1:c.-453-2A>G	XP_024306863.1:n.-453-2A>G
NM_001943.5:c.82-2A>G MANE Select	NP_001934.2:n.82-2A>G