Canonical Allele Identifier: CA402132295

Gene: DSG2

Linked Data

• ClinVar Variation Id: 918404
• ClinVar RCV Id: RCV001175974 ; RCV003769868
• dbSNP Id: rs2073126133
• gnomAD v4: 18-31521198-A-G
• MyVariant Identifiers: chr18:g.29101161A>G (hg19) ; chr18:g.31521198A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31521198A>G , CM000680.2:g.31521198A>G	GRCh38
NC_000018.9:g.29101161A>G , CM000680.1:g.29101161A>G	GRCh37
NC_000018.8:g.27355159A>G	NCBI36
NG_007072.3:g.27957A>G , LRG_397:g.27957A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000682087.2:n.309A>G
ENST00000682241.2:c.478A>G	ENSP00000507600.2:p.Thr160Ala
ENST00000683614.2:n.309A>G
ENST00000682087.1:c.309A>G
ENST00000682241.1:c.309A>G
ENST00000683614.1:c.309A>G
ENST00000683654.1:c.478A>G	ENSP00000506971.1:p.Thr160Ala
ENST00000684461.1:n.309A>G
ENST00000261590.13:c.478A>G MANE Select	ENSP00000261590.8:p.Thr160Ala
ENST00000261590.12:c.478A>G	ENSP00000261590.8:p.Thr160Ala
ENST00000585206.1:c.478A>G	ENSP00000462503.1:p.Thr160Ala
NM_001943.3:c.478A>G , LRG_397t1:c.478A>G	NP_001934.2:p.Thr160Ala
NM_001943.4:c.478A>G	NP_001934.2:p.Thr160Ala
XM_024451095.1:c.-57A>G	XP_024306863.1:n.-57A>G
NM_001943.5:c.478A>G MANE Select	NP_001934.2:p.Thr160Ala