Canonical Allele Identifier: CA022349
Gene: DSG2 HGNC NCBI

Linked Data

ClinVar Variation Id: 199804
dbSNP Id: rs751012696

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31524763G>A , CM000680.2:g.31524763G>A GRCh38
NC_000018.9:g.29104726G>A , CM000680.1:g.29104726G>A GRCh37
NC_000018.8:g.27358724G>A NCBI36
NG_007072.3:g.31522G>A , LRG_397:g.31522G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000682087.2:n.720G>A
ENST00000683614.2:n.720G>A
ENST00000682087.1:c.720G>A
ENST00000683614.1:c.720G>A
ENST00000261590.13:c.889G>A MANE Select ENSP00000261590.8:p.Asp297Asn
ENST00000261590.12:c.889G>A ENSP00000261590.8:p.Asp297Asn
NM_001943.3:c.889G>A , LRG_397t1:c.889G>A NP_001934.2:p.Asp297Asn
NM_001943.4:c.889G>A NP_001934.2:p.Asp297Asn
XM_024451095.1:c.355G>A XP_024306863.1:p.Asp119Asn
NM_001943.5:c.889G>A MANE Select NP_001934.2:p.Asp297Asn