Canonical Allele Identifier: CA503600700
Gene: DSG2 HGNC NCBI

Linked Data

COSMIC: COSM987625
MyVariant Identifiers: chr18:g.29116235A>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31536272A>C , CM000680.2:g.31536272A>C GRCh38
NC_000018.9:g.29116235A>C , CM000680.1:g.29116235A>C GRCh37
NC_000018.8:g.27370233A>C NCBI36
NG_007072.3:g.43031A>C , LRG_397:g.43031A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000261590.13:c.1494A>C MANE Select ENSP00000261590.8:p.Thr498=
ENST00000261590.12:c.1494A>C ENSP00000261590.8:p.Thr498=
NM_001943.3:c.1494A>C , LRG_397t1:c.1494A>C NP_001934.2:p.Thr498=
NM_001943.4:c.1494A>C NP_001934.2:p.Thr498=
XM_024451095.1:c.960A>C XP_024306863.1:p.Thr320=
NM_001943.5:c.1494A>C MANE Select NP_001934.2:p.Thr498=