Canonical Allele Identifier: CA022181
Gene: DSG2 HGNC NCBI

Linked Data

ClinVar Variation Id: 44323
dbSNP Id: rs368512832

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31522104A>G , CM000680.2:g.31522104A>G GRCh38
NC_000018.9:g.29102067A>G , CM000680.1:g.29102067A>G GRCh37
NC_000018.8:g.27356065A>G NCBI36
NG_007072.3:g.28863A>G , LRG_397:g.28863A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000261590.13:c.545A>G MANE Select ENSP00000261590.8:p.Asn182Ser
ENST00000261590.12:c.545A>G ENSP00000261590.8:p.Asn182Ser
ENST00000585206.1:c.545A>G ENSP00000462503.1:p.Asn182Ser
NM_001943.3:c.545A>G , LRG_397t1:c.545A>G NP_001934.2:p.Asn182Ser
NM_001943.4:c.545A>G NP_001934.2:p.Asn182Ser
XM_024451095.1:c.11A>G XP_024306863.1:p.Asn4Ser
NM_001943.5:c.545A>G MANE Select NP_001934.2:p.Asn182Ser