Canonical Allele Identifier: CA8923480
Community Standard Title: NM_001792.5(CDH2):c.1219G>A (p.Asp407Asn)
Gene: CDH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.27992780C>T , CM000680.2:g.27992780C>T GRCh38
NC_000018.9:g.25572744C>T , CM000680.1:g.25572744C>T GRCh37
NC_000018.8:g.23826742C>T NCBI36
NG_011959.1:g.189702G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001792.5:c.1219G>A MANE Select NP_001783.2:p.Asp407Asn
ENST00000269141.8:c.1219G>A MANE Select ENSP00000269141.3:p.Asp407Asn
NM_001308176.1:c.1126G>A NP_001295105.1:p.Asp376Asn
NM_001308176.2:c.1126G>A NP_001295105.1:p.Asp376Asn
NM_001792.3:c.1219G>A NP_001783.2:p.Asp407Asn
NM_001792.4:c.1219G>A NP_001783.2:p.Asp407Asn
ENST00000269141.7:c.1219G>A ENSP00000269141.3:p.Asp407Asn
ENST00000399380.7:c.1126G>A ENSP00000382312.3:p.Asp376Asn
ENST00000413878.2:c.964G>A ENSP00000414269.2:p.Asp322Asn
ENST00000430882.6:c.964G>A ENSP00000412120.2:p.Asp322Asn
ENST00000675708.1:c.964G>A ENSP00000501654.1:p.Asp322Asn
ENST00000676041.1:n.950G>A
ENST00000676445.1:c.964G>A ENSP00000502206.1:p.Asp322Asn
XM_005258181.2:c.1165G>A XP_005258238.1:p.Asp389Asn
XM_011525787.1:c.1165G>A XP_011524089.1:p.Asp389Asn
XM_011525788.1:c.964G>A XP_011524090.1:p.Asp322Asn
XM_017025514.2:c.1219G>A XP_016881003.1:p.Asp407Asn