Canonical Allele Identifier: CA503598151
Gene: DSG2 HGNC NCBI
DSG2-AS1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr18:g.29122530A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31542567A>G , CM000680.2:g.31542567A>G GRCh38
NC_000018.9:g.29122530A>G , CM000680.1:g.29122530A>G GRCh37
NC_000018.8:g.27376528A>G NCBI36
NG_007072.3:g.49326A>G , LRG_397:g.49326A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000261590.13:c.2049A>G (DSG2) MANE Select ENSP00000261590.8:p.Gly683=
ENST00000261590.12:c.2049A>G (DSG2) ENSP00000261590.8:p.Gly683=
NM_001943.3:c.2049A>G , LRG_397t1:c.2049A>G (DSG2) NP_001934.2:p.Gly683=
NR_045216.1:n.1811-246T>C (DSG2-AS1)
NM_001943.4:c.2049A>G (DSG2) NP_001934.2:p.Gly683=
XM_024451095.1:c.1515A>G (DSG2) XP_024306863.1:p.Gly505=
NM_001943.5:c.2049A>G (DSG2) MANE Select NP_001934.2:p.Gly683=