Canonical Allele Identifier: CA503600710
Gene: DSG2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr18:g.29116247T>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31536284T>A , CM000680.2:g.31536284T>A GRCh38
NC_000018.9:g.29116247T>A , CM000680.1:g.29116247T>A GRCh37
NC_000018.8:g.27370245T>A NCBI36
NG_007072.3:g.43043T>A , LRG_397:g.43043T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000261590.13:c.1506T>A MANE Select ENSP00000261590.8:p.Pro502=
ENST00000261590.12:c.1506T>A ENSP00000261590.8:p.Pro502=
NM_001943.3:c.1506T>A , LRG_397t1:c.1506T>A NP_001934.2:p.Pro502=
NM_001943.4:c.1506T>A NP_001934.2:p.Pro502=
XM_024451095.1:c.972T>A XP_024306863.1:p.Pro324=
NM_001943.5:c.1506T>A MANE Select NP_001934.2:p.Pro502=