Canonical Allele Identifier: CA503598110
Gene: DSG2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr18:g.29102089C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31522126C>G , CM000680.2:g.31522126C>G GRCh38
NC_000018.9:g.29102089C>G , CM000680.1:g.29102089C>G GRCh37
NC_000018.8:g.27356087C>G NCBI36
NG_007072.3:g.28885C>G , LRG_397:g.28885C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000682087.2:n.398C>G
ENST00000682241.2:c.567C>G ENSP00000507600.2:p.Pro189=
ENST00000683614.2:n.398C>G
ENST00000682087.1:c.398C>G
ENST00000682241.1:c.398C>G
ENST00000683614.1:c.398C>G
ENST00000683654.1:c.567C>G ENSP00000506971.1:p.Pro189=
ENST00000684461.1:n.1237C>G
ENST00000261590.13:c.567C>G MANE Select ENSP00000261590.8:p.Pro189=
ENST00000261590.12:c.567C>G ENSP00000261590.8:p.Pro189=
ENST00000585206.1:c.567C>G ENSP00000462503.1:p.Pro189=
NM_001943.3:c.567C>G , LRG_397t1:c.567C>G NP_001934.2:p.Pro189=
NM_001943.4:c.567C>G NP_001934.2:p.Pro189=
XM_024451095.1:c.33C>G XP_024306863.1:p.Pro11=
NM_001943.5:c.567C>G MANE Select NP_001934.2:p.Pro189=