Canonical Allele Identifier: CA402132150

Gene: DSG2

Linked Data

• ClinVar Variation Id: 664816
• ClinVar RCV Id: RCV000822986 ; RCV001181192
• dbSNP Id: rs1598810722
• gnomAD v4: 18-31521171-G-A
• MyVariant Identifiers: chr18:g.29101134G>A (hg19) ; chr18:g.31521171G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31521171G>A , CM000680.2:g.31521171G>A	GRCh38
NC_000018.9:g.29101134G>A , CM000680.1:g.29101134G>A	GRCh37
NC_000018.8:g.27355132G>A	NCBI36
NG_007072.3:g.27930G>A , LRG_397:g.27930G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682087.2:n.282G>A
ENST00000682241.2:c.451G>A	ENSP00000507600.2:p.Asp151Asn
ENST00000683614.2:n.282G>A
ENST00000682087.1:c.282G>A
ENST00000682241.1:c.282G>A
ENST00000683614.1:c.282G>A
ENST00000683654.1:c.451G>A	ENSP00000506971.1:p.Asp151Asn
ENST00000684461.1:n.282G>A
ENST00000261590.13:c.451G>A MANE Select	ENSP00000261590.8:p.Asp151Asn
ENST00000261590.12:c.451G>A	ENSP00000261590.8:p.Asp151Asn
ENST00000585206.1:c.451G>A	ENSP00000462503.1:p.Asp151Asn
NM_001943.3:c.451G>A , LRG_397t1:c.451G>A	NP_001934.2:p.Asp151Asn
NM_001943.4:c.451G>A	NP_001934.2:p.Asp151Asn
XM_024451095.1:c.-84G>A	XP_024306863.1:n.-84G>A
NM_001943.5:c.451G>A MANE Select	NP_001934.2:p.Asp151Asn