Canonical Allele Identifier: CA402100949
Community Standard Title: NM_001792.5(CDH2):c.2687A>G (p.Lys896Arg)
Gene: CDH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.27952187T>C , CM000680.2:g.27952187T>C GRCh38
NC_000018.9:g.25532151T>C , CM000680.1:g.25532151T>C GRCh37
NC_000018.8:g.23786149T>C NCBI36
NG_011959.1:g.230295A>G

Transcript Alleles

HGVS Amino-acid Change
NM_001792.5:c.2687A>G MANE Select NP_001783.2:p.Lys896Arg
ENST00000269141.8:c.2687A>G MANE Select ENSP00000269141.3:p.Lys896Arg
NM_001308176.1:c.2594A>G NP_001295105.1:p.Lys865Arg
NM_001308176.2:c.2594A>G NP_001295105.1:p.Lys865Arg
NM_001792.3:c.2687A>G NP_001783.2:p.Lys896Arg
NM_001792.4:c.2687A>G NP_001783.2:p.Lys896Arg
ENST00000269141.7:c.2687A>G ENSP00000269141.3:p.Lys896Arg
ENST00000399380.7:c.2594A>G ENSP00000382312.3:p.Lys865Arg
ENST00000430882.6:c.2432A>G ENSP00000412120.2:p.Lys811Arg
ENST00000674998.1:n.2652A>G
ENST00000675173.1:c.1151+11170A>G
ENST00000675688.1:c.466+11170A>G
ENST00000675708.1:c.*1002A>G ENSP00000501654.1:n.*1002A>G
ENST00000676445.1:c.2432A>G ENSP00000502206.1:p.Lys811Arg
XM_005258181.2:c.2633A>G XP_005258238.1:p.Lys878Arg
XM_011525787.1:c.2460+11170A>G XP_011524089.1:n.2460+11170A>G
XM_011525788.1:c.2432A>G XP_011524090.1:p.Lys811Arg
XM_017025514.2:c.2514+11170A>G XP_016881003.1:n.2514+11170A>G