Canonical Allele Identifier: CA402103843
Community Standard Title: NM_001792.5(CDH2):c.2489G>A (p.Gly830Glu)
Gene: CDH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.27963382C>T , CM000680.2:g.27963382C>T GRCh38
NC_000018.9:g.25543346C>T , CM000680.1:g.25543346C>T GRCh37
NC_000018.8:g.23797344C>T NCBI36
NG_011959.1:g.219100G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001792.5:c.2489G>A MANE Select NP_001783.2:p.Gly830Glu
ENST00000269141.8:c.2489G>A MANE Select ENSP00000269141.3:p.Gly830Glu
NM_001308176.1:c.2396G>A NP_001295105.1:p.Gly799Glu
NM_001308176.2:c.2396G>A NP_001295105.1:p.Gly799Glu
NM_001792.3:c.2489G>A NP_001783.2:p.Gly830Glu
NM_001792.4:c.2489G>A NP_001783.2:p.Gly830Glu
ENST00000269141.7:c.2489G>A ENSP00000269141.3:p.Gly830Glu
ENST00000399380.7:c.2396G>A ENSP00000382312.3:p.Gly799Glu
ENST00000430882.6:c.2234G>A ENSP00000412120.2:p.Gly745Glu
ENST00000674998.1:n.2454G>A
ENST00000675173.1:c.1126G>A
ENST00000675688.1:c.441G>A
ENST00000675708.1:c.*804G>A ENSP00000501654.1:n.*804G>A
ENST00000676041.1:n.2220G>A
ENST00000676445.1:c.2234G>A ENSP00000502206.1:p.Gly745Glu
XM_005258181.2:c.2435G>A XP_005258238.1:p.Gly812Glu
XM_011525787.1:c.2435G>A XP_011524089.1:p.Gly812Glu
XM_011525788.1:c.2234G>A XP_011524090.1:p.Gly745Glu
XM_017025514.2:c.2489G>A XP_016881003.1:p.Gly830Glu