Canonical Allele Identifier: CA503599280
Gene: DSG2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr18:g.29104746T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31524783T>C , CM000680.2:g.31524783T>C GRCh38
NC_000018.9:g.29104746T>C , CM000680.1:g.29104746T>C GRCh37
NC_000018.8:g.27358744T>C NCBI36
NG_007072.3:g.31542T>C , LRG_397:g.31542T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000682087.2:n.740T>C
ENST00000683614.2:n.740T>C
ENST00000682087.1:c.740T>C
ENST00000683614.1:c.740T>C
ENST00000261590.13:c.909T>C MANE Select ENSP00000261590.8:p.Ser303=
ENST00000261590.12:c.909T>C ENSP00000261590.8:p.Ser303=
NM_001943.3:c.909T>C , LRG_397t1:c.909T>C NP_001934.2:p.Ser303=
NM_001943.4:c.909T>C NP_001934.2:p.Ser303=
XM_024451095.1:c.375T>C XP_024306863.1:p.Ser125=
NM_001943.5:c.909T>C MANE Select NP_001934.2:p.Ser303=