Canonical Allele Identifier: CA1139666005

Gene: DSG2

Linked Data

• ClinVar Variation Id: 931696
• ClinVar RCV Id: RCV001198540 ; RCV002284472
• dbSNP Id: rs2073149649
• gnomAD v4: 18-31524559-A-AATATACCT

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31524560_31524567dup , CM000680.2:g.31524560_31524567dup	GRCh38
NC_000018.9:g.29104523_29104530dup , CM000680.1:g.29104523_29104530dup	GRCh37
NC_000018.8:g.27358521_27358528dup	NCBI36
NG_007072.3:g.31319_31326dup , LRG_397:g.31319_31326dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000682087.2:n.634_641dup
ENST00000683614.2:n.634_641dup
ENST00000682087.1:c.634_641dup
ENST00000683614.1:c.634_641dup
ENST00000261590.13:c.803_810dup MANE Select	ENSP00000261590.8:p.Val271IlefsTer4
ENST00000261590.12:c.803_810dup	ENSP00000261590.8:p.Val271IlefsTer4
NM_001943.3:c.803_810dup , LRG_397t1:c.803_810dup	NP_001934.2:p.Val271IlefsTer4
NM_001943.4:c.803_810dup	NP_001934.2:p.Val271IlefsTer4
XM_024451095.1:c.269_276dup	XP_024306863.1:p.Val93IlefsTer4
NM_001943.5:c.803_810dup MANE Select	NP_001934.2:p.Val271IlefsTer4