Canonical Allele Identifier: CA2293865889
Community Standard Title: NM_001943.5(DSG2):c.2434G= (p.Gly812=)
Gene: DSG2 HGNC NCBI
DSG2-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31545820G= , CM000680.2:g.31545820G= GRCh38
NC_000018.9:g.29125783G= , CM000680.1:g.29125783G= GRCh37
NC_000018.8:g.27379781G= NCBI36
NG_007072.3:g.52579G= , LRG_397:g.52579G=

Transcript Alleles

HGVS Amino-acid Change
NM_001943.5:c.2434G= (DSG2) MANE Select NP_001934.2:p.Gly812=
ENST00000261590.13:c.2434G= (DSG2) MANE Select ENSP00000261590.8:p.Gly812=
NM_001943.3:c.2434G= , LRG_397t1:c.2434G= (DSG2) NP_001934.2:p.Gly812=
NM_001943.4:c.2434G= (DSG2) NP_001934.2:p.Gly812=
NR_045216.1:n.1432C= (DSG2-AS1)
ENST00000261590.12:c.2434G= (DSG2) ENSP00000261590.8:p.Gly812=
XM_024451095.1:c.1900G= (DSG2) XP_024306863.1:p.Gly634=