Canonical Allele Identifier: CA402134090
Gene: DSG2 HGNC NCBI

Linked Data

ClinVar Variation Id: 924142
dbSNP Id: rs751490881

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31522236C>A , CM000680.2:g.31522236C>A GRCh38
NC_000018.9:g.29102199C>A , CM000680.1:g.29102199C>A GRCh37
NC_000018.8:g.27356197C>A NCBI36
NG_007072.3:g.28995C>A , LRG_397:g.28995C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000682087.2:n.508C>A
ENST00000682241.2:c.677C>A ENSP00000507600.2:p.Thr226Asn
ENST00000683614.2:n.508C>A
ENST00000682087.1:c.508C>A
ENST00000682241.1:c.508C>A
ENST00000683614.1:c.508C>A
ENST00000683654.1:c.677C>A ENSP00000506971.1:p.Thr226Asn
ENST00000684461.1:n.1347C>A
ENST00000261590.13:c.677C>A MANE Select ENSP00000261590.8:p.Thr226Asn
ENST00000261590.12:c.677C>A ENSP00000261590.8:p.Thr226Asn
ENST00000585206.1:c.677C>A ENSP00000462503.1:p.Thr226Asn
NM_001943.3:c.677C>A , LRG_397t1:c.677C>A NP_001934.2:p.Thr226Asn
NM_001943.4:c.677C>A NP_001934.2:p.Thr226Asn
XM_024451095.1:c.143C>A XP_024306863.1:p.Thr48Asn
NM_001943.5:c.677C>A MANE Select NP_001934.2:p.Thr226Asn