Canonical Allele Identifier: CA402135510

Gene: DSG2

Linked Data

• ClinVar Variation Id: 1370858
• ClinVar RCV Id: RCV001864388
• dbSNP Id: rs2144322727
• MyVariant Identifiers: chr18:g.29104706T>G (hg19) ; chr18:g.31524743T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31524743T>G , CM000680.2:g.31524743T>G	GRCh38
NC_000018.9:g.29104706T>G , CM000680.1:g.29104706T>G	GRCh37
NC_000018.8:g.27358704T>G	NCBI36
NG_007072.3:g.31502T>G , LRG_397:g.31502T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682087.2:n.700T>G
ENST00000683614.2:n.700T>G
ENST00000682087.1:c.700T>G
ENST00000683614.1:c.700T>G
ENST00000261590.13:c.869T>G MANE Select	ENSP00000261590.8:p.Val290Gly
ENST00000261590.12:c.869T>G	ENSP00000261590.8:p.Val290Gly
NM_001943.3:c.869T>G , LRG_397t1:c.869T>G	NP_001934.2:p.Val290Gly
NM_001943.4:c.869T>G	NP_001934.2:p.Val290Gly
XM_024451095.1:c.335T>G	XP_024306863.1:p.Val112Gly
NM_001943.5:c.869T>G MANE Select	NP_001934.2:p.Val290Gly