Canonical Allele Identifier: CA503600685
Gene: DSG2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr18:g.29116202C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31536239C>T , CM000680.2:g.31536239C>T GRCh38
NC_000018.9:g.29116202C>T , CM000680.1:g.29116202C>T GRCh37
NC_000018.8:g.27370200C>T NCBI36
NG_007072.3:g.42998C>T , LRG_397:g.42998C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000261590.13:c.1461C>T MANE Select ENSP00000261590.8:p.Ile487=
ENST00000261590.12:c.1461C>T ENSP00000261590.8:p.Ile487=
NM_001943.3:c.1461C>T , LRG_397t1:c.1461C>T NP_001934.2:p.Ile487=
NM_001943.4:c.1461C>T NP_001934.2:p.Ile487=
XM_024451095.1:c.927C>T XP_024306863.1:p.Ile309=
NM_001943.5:c.1461C>T MANE Select NP_001934.2:p.Ile487=