Canonical Allele Identifier: CA2293855507
Community Standard Title: NM_001943.5(DSG2):c.523+1G=
Gene: DSG2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31521244G= , CM000680.2:g.31521244G= GRCh38
NC_000018.9:g.29101207G= , CM000680.1:g.29101207G= GRCh37
NC_000018.8:g.27355205G= NCBI36
NG_007072.3:g.28003G= , LRG_397:g.28003G=

Transcript Alleles

HGVS Amino-acid Change
NM_001943.5:c.523+1G= MANE Select NP_001934.2:n.523+1G=
ENST00000261590.13:c.523+1G= MANE Select ENSP00000261590.8:n.523+1G=
NM_001943.3:c.523+1G= , LRG_397t1:c.523+1G= NP_001934.2:n.523+1G=
NM_001943.4:c.523+1G= NP_001934.2:n.523+1G=
ENST00000261590.12:c.523+1G= ENSP00000261590.8:n.523+1G=
ENST00000585206.1:c.523+1G= ENSP00000462503.1:n.523+1G=
ENST00000682087.1:c.354+1G=
ENST00000682087.2:n.354+1G=
ENST00000682241.1:c.354+1G=
ENST00000682241.2:c.523+1G= ENSP00000507600.2:n.523+1G=
ENST00000683614.1:c.354+1G=
ENST00000683614.2:n.354+1G=
ENST00000683654.1:c.523+1G= ENSP00000506971.1:n.523+1G=
ENST00000684461.1:n.355G=
XM_024451095.1:c.-12+1G= XP_024306863.1:n.-12+1G=