Canonical Allele Identifier: CA2839596674

Gene: DSG2

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31520928del , CM000680.2:g.31520928del	GRCh38
NC_000018.9:g.29100891del , CM000680.1:g.29100891del	GRCh37
NC_000018.8:g.27354889del	NCBI36
NG_007072.3:g.27687del , LRG_397:g.27687del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682087.2:n.173del
ENST00000682241.2:c.342del	ENSP00000507600.2:p.Ser115AlafsTer13
ENST00000683614.2:n.173del
ENST00000682087.1:c.173del
ENST00000682241.1:c.173del
ENST00000683614.1:c.173del
ENST00000683654.1:c.342del	ENSP00000506971.1:p.Ser115AlafsTer13
ENST00000684461.1:n.173del
ENST00000261590.13:c.342del MANE Select	ENSP00000261590.8:p.Ser115AlafsTer13
ENST00000261590.12:c.342del	ENSP00000261590.8:p.Ser115AlafsTer13
ENST00000585206.1:c.342del	ENSP00000462503.1:p.Ser115AlafsTer13
NM_001943.3:c.342del , LRG_397t1:c.342del	NP_001934.2:p.Ser115AlafsTer13
NM_001943.4:c.342del	NP_001934.2:p.Ser115AlafsTer13
XM_024451095.1:c.-193del	XP_024306863.1:n.-193del
NM_001943.5:c.342del MANE Select	NP_001934.2:p.Ser115AlafsTer13