Canonical Allele Identifier: CA8923575
Community Standard Title: NM_001792.5(CDH2):c.885C>T (p.Asp295=)
Gene: CDH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.28003132G>A , CM000680.2:g.28003132G>A GRCh38
NC_000018.9:g.25583096G>A , CM000680.1:g.25583096G>A GRCh37
NC_000018.8:g.23837094G>A NCBI36
NG_011959.1:g.179350C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001792.5:c.885C>T MANE Select NP_001783.2:p.Asp295=
ENST00000269141.8:c.885C>T MANE Select ENSP00000269141.3:p.Asp295=
NM_001308176.1:c.792C>T NP_001295105.1:p.Asp264=
NM_001308176.2:c.792C>T NP_001295105.1:p.Asp264=
NM_001792.3:c.885C>T NP_001783.2:p.Asp295=
NM_001792.4:c.885C>T NP_001783.2:p.Asp295=
ENST00000269141.7:c.885C>T ENSP00000269141.3:p.Asp295=
ENST00000399380.7:c.792C>T ENSP00000382312.3:p.Asp264=
ENST00000413878.2:c.630C>T ENSP00000414269.2:p.Asp210=
ENST00000430882.6:c.630C>T ENSP00000412120.2:p.Asp210=
ENST00000675708.1:c.630C>T ENSP00000501654.1:p.Asp210=
ENST00000676041.1:n.616C>T
ENST00000676445.1:c.630C>T ENSP00000502206.1:p.Asp210=
XM_005258181.2:c.831C>T XP_005258238.1:p.Asp277=
XM_011525787.1:c.831C>T XP_011524089.1:p.Asp277=
XM_011525788.1:c.630C>T XP_011524090.1:p.Asp210=
XM_017025514.2:c.885C>T XP_016881003.1:p.Asp295=