Canonical Allele Identifier: CA2573155175

Gene: DSG2

Linked Data

• ClinVar Variation Id: 1427568
• ClinVar RCV Id: RCV001933776
• dbSNP Id: rs2144317658

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31522086_31522092del , CM000680.2:g.31522086_31522092del	GRCh38
NC_000018.9:g.29102049_29102055del , CM000680.1:g.29102049_29102055del	GRCh37
NC_000018.8:g.27356047_27356053del	NCBI36
NG_007072.3:g.28845_28851del , LRG_397:g.28845_28851del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682087.2:n.358_364del
ENST00000682241.2:c.527_533del	ENSP00000507600.2:p.Thr176ArgfsTer2
ENST00000683614.2:n.358_364del
ENST00000682087.1:c.358_364del
ENST00000682241.1:c.358_364del
ENST00000683614.1:c.358_364del
ENST00000683654.1:c.527_533del	ENSP00000506971.1:p.Thr176ArgfsTer2
ENST00000684461.1:n.1197_1203del
ENST00000261590.13:c.527_533del MANE Select	ENSP00000261590.8:p.Thr176ArgfsTer2
ENST00000261590.12:c.527_533del	ENSP00000261590.8:p.Thr176ArgfsTer2
ENST00000585206.1:c.527_533del	ENSP00000462503.1:p.Thr176ArgfsTer2
NM_001943.3:c.527_533del , LRG_397t1:c.527_533del	NP_001934.2:p.Thr176ArgfsTer2
NM_001943.4:c.527_533del	NP_001934.2:p.Thr176ArgfsTer2
XM_024451095.1:c.-8_-2del	XP_024306863.1:n.-8_-2del
NM_001943.5:c.527_533del MANE Select	NP_001934.2:p.Thr176ArgfsTer2