Canonical Allele Identifier: CA021695
Gene: DSG2 HGNC NCBI

Linked Data

ClinVar Variation Id: 199797
dbSNP Id: rs774208829

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31519940A>C , CM000680.2:g.31519940A>C GRCh38
NC_000018.9:g.29099903A>C , CM000680.1:g.29099903A>C GRCh37
NC_000018.8:g.27353901A>C NCBI36
NG_007072.3:g.26699A>C , LRG_397:g.26699A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000261590.13:c.216+3A>C MANE Select ENSP00000261590.8:p.=
ENST00000261590.12:c.216+3A>C ENSP00000261590.8:p.=
ENST00000585206.1:c.216+3A>C ENSP00000462503.1:p.=
NM_001943.3:c.216+3A>C , LRG_397t1:c.216+3A>C NP_001934.2:p.=
NM_001943.4:c.216+3A>C NP_001934.2:p.=
XM_024451095.1:c.-319+3A>C XP_024306863.1:p.=
NM_001943.5:c.216+3A>C MANE Select NP_001934.2:p.=