Canonical Allele Identifier: CA8923148
Community Standard Title: NM_001792.5(CDH2):c.2448C>T (p.Ala816=)
Gene: CDH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.27963423G>A , CM000680.2:g.27963423G>A GRCh38
NC_000018.9:g.25543387G>A , CM000680.1:g.25543387G>A GRCh37
NC_000018.8:g.23797385G>A NCBI36
NG_011959.1:g.219059C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001792.5:c.2448C>T MANE Select NP_001783.2:p.Ala816=
ENST00000269141.8:c.2448C>T MANE Select ENSP00000269141.3:p.Ala816=
NM_001308176.1:c.2355C>T NP_001295105.1:p.Ala785=
NM_001308176.2:c.2355C>T NP_001295105.1:p.Ala785=
NM_001792.3:c.2448C>T NP_001783.2:p.Ala816=
NM_001792.4:c.2448C>T NP_001783.2:p.Ala816=
ENST00000269141.7:c.2448C>T ENSP00000269141.3:p.Ala816=
ENST00000399380.7:c.2355C>T ENSP00000382312.3:p.Ala785=
ENST00000430882.6:c.2193C>T ENSP00000412120.2:p.Ala731=
ENST00000674998.1:n.2413C>T
ENST00000675173.1:c.1085C>T
ENST00000675688.1:c.400C>T
ENST00000675708.1:c.*763C>T ENSP00000501654.1:n.*763C>T
ENST00000676041.1:n.2179C>T
ENST00000676445.1:c.2193C>T ENSP00000502206.1:p.Ala731=
XM_005258181.2:c.2394C>T XP_005258238.1:p.Ala798=
XM_011525787.1:c.2394C>T XP_011524089.1:p.Ala798=
XM_011525788.1:c.2193C>T XP_011524090.1:p.Ala731=
XM_017025514.2:c.2448C>T XP_016881003.1:p.Ala816=