Canonical Allele Identifier: CA503599188
Gene: DSG2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr18:g.29104548G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31524585G>T , CM000680.2:g.31524585G>T GRCh38
NC_000018.9:g.29104548G>T , CM000680.1:g.29104548G>T GRCh37
NC_000018.8:g.27358546G>T NCBI36
NG_007072.3:g.31344G>T , LRG_397:g.31344G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000682087.2:n.659G>T
ENST00000683614.2:n.659G>T
ENST00000682087.1:c.659G>T
ENST00000683614.1:c.659G>T
ENST00000261590.13:c.828G>T MANE Select ENSP00000261590.8:p.Val276=
ENST00000261590.12:c.828G>T ENSP00000261590.8:p.Val276=
NM_001943.3:c.828G>T , LRG_397t1:c.828G>T NP_001934.2:p.Val276=
NM_001943.4:c.828G>T NP_001934.2:p.Val276=
XM_024451095.1:c.294G>T XP_024306863.1:p.Val98=
NM_001943.5:c.828G>T MANE Select NP_001934.2:p.Val276=