Canonical Allele Identifier: CA2580612971

Gene: DSG2

Linked Data

• ClinVar Variation Id: 2572599
• ClinVar RCV Id: RCV003314484
• gnomAD v4: 18-31521100-TA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31521102del , CM000680.2:g.31521102del	GRCh38
NC_000018.9:g.29101065del , CM000680.1:g.29101065del	GRCh37
NC_000018.8:g.27355063del	NCBI36
NG_007072.3:g.27861del , LRG_397:g.27861del

Transcript Alleles

HGVS	Amino-acid change
ENST00000682087.2:n.213del
ENST00000682241.2:c.382del	ENSP00000507600.2:p.Thr128GlnfsTer12
ENST00000683614.2:n.213del
ENST00000682087.1:c.213del
ENST00000682241.1:c.213del
ENST00000683614.1:c.213del
ENST00000683654.1:c.382del	ENSP00000506971.1:p.Thr128GlnfsTer12
ENST00000684461.1:n.213del
ENST00000261590.13:c.382del MANE Select	ENSP00000261590.8:p.Thr128GlnfsTer12
ENST00000261590.12:c.382del	ENSP00000261590.8:p.Thr128GlnfsTer12
ENST00000585206.1:c.382del	ENSP00000462503.1:p.Thr128GlnfsTer12
NM_001943.3:c.382del , LRG_397t1:c.382del	NP_001934.2:p.Thr128GlnfsTer12
NM_001943.4:c.382del	NP_001934.2:p.Thr128GlnfsTer12
XM_024451095.1:c.-153del	XP_024306863.1:n.-153del
NM_001943.5:c.382del MANE Select	NP_001934.2:p.Thr128GlnfsTer12