Canonical Allele Identifier: CA503600772
Gene: DSG2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr18:g.29116340C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31536377C>G , CM000680.2:g.31536377C>G GRCh38
NC_000018.9:g.29116340C>G , CM000680.1:g.29116340C>G GRCh37
NC_000018.8:g.27370338C>G NCBI36
NG_007072.3:g.43136C>G , LRG_397:g.43136C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000261590.13:c.1599C>G MANE Select ENSP00000261590.8:p.Val533=
ENST00000261590.12:c.1599C>G ENSP00000261590.8:p.Val533=
NM_001943.3:c.1599C>G , LRG_397t1:c.1599C>G NP_001934.2:p.Val533=
NM_001943.4:c.1599C>G NP_001934.2:p.Val533=
XM_024451095.1:c.1065C>G XP_024306863.1:p.Val355=
NM_001943.5:c.1599C>G MANE Select NP_001934.2:p.Val533=