Canonical Allele Identifier: CA2697555344
Community Standard Title: NM_001792.5(CDH2):c.2716dup (p.Asp906GlyfsTer30)
Gene: CDH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.27952158dup , CM000680.2:g.27952158dup GRCh38
NC_000018.9:g.25532122dup , CM000680.1:g.25532122dup GRCh37
NC_000018.8:g.23786120dup NCBI36
NG_011959.1:g.230324dup

Transcript Alleles

HGVS Amino-acid Change
NM_001792.5:c.2716dup MANE Select NP_001783.2:p.Asp906GlyfsTer30
ENST00000269141.8:c.2716dup MANE Select ENSP00000269141.3:p.Asp906GlyfsTer30
NM_001308176.1:c.2623dup NP_001295105.1:p.Asp875GlyfsTer30
NM_001308176.2:c.2623dup NP_001295105.1:p.Asp875GlyfsTer30
NM_001792.3:c.2716dup NP_001783.2:p.Asp906GlyfsTer30
NM_001792.4:c.2716dup NP_001783.2:p.Asp906GlyfsTer30
ENST00000269141.7:c.2716dup ENSP00000269141.3:p.Asp906GlyfsTer30
ENST00000399380.7:c.2623dup ENSP00000382312.3:p.Asp875GlyfsTer30
ENST00000430882.6:c.2461dup ENSP00000412120.2:p.Asp821GlyfsTer30
ENST00000674998.1:n.2681dup
ENST00000675173.1:c.1151+11199dup
ENST00000675688.1:c.466+11199dup
ENST00000675708.1:c.*1031dup ENSP00000501654.1:n.*1031dup
ENST00000676445.1:c.2461dup ENSP00000502206.1:p.Asp821GlyfsTer30
XM_005258181.2:c.2662dup XP_005258238.1:p.Asp888GlyfsTer30
XM_011525787.1:c.2460+11199dup XP_011524089.1:n.2460+11199dup
XM_011525788.1:c.2461dup XP_011524090.1:p.Asp821GlyfsTer30
XM_017025514.2:c.2514+11199dup XP_016881003.1:n.2514+11199dup