Canonical Allele Identifier: CA503599273
Gene: DSG2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr18:g.29104737A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31524774A>G , CM000680.2:g.31524774A>G GRCh38
NC_000018.9:g.29104737A>G , CM000680.1:g.29104737A>G GRCh37
NC_000018.8:g.27358735A>G NCBI36
NG_007072.3:g.31533A>G , LRG_397:g.31533A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000682087.2:n.731A>G
ENST00000683614.2:n.731A>G
ENST00000682087.1:c.731A>G
ENST00000683614.1:c.731A>G
ENST00000261590.13:c.900A>G MANE Select ENSP00000261590.8:p.Glu300=
ENST00000261590.12:c.900A>G ENSP00000261590.8:p.Glu300=
NM_001943.3:c.900A>G , LRG_397t1:c.900A>G NP_001934.2:p.Glu300=
NM_001943.4:c.900A>G NP_001934.2:p.Glu300=
XM_024451095.1:c.366A>G XP_024306863.1:p.Glu122=
NM_001943.5:c.900A>G MANE Select NP_001934.2:p.Glu300=