Canonical Allele Identifier: CA297653084
Community Standard Title: NM_001792.5(CDH2):c.2597C>A (p.Thr866Asn)
Gene: CDH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.27952277G>T , CM000680.2:g.27952277G>T GRCh38
NC_000018.9:g.25532241G>T , CM000680.1:g.25532241G>T GRCh37
NC_000018.8:g.23786239G>T NCBI36
NG_011959.1:g.230205C>A

Transcript Alleles

HGVS Amino-acid Change
NM_001792.5:c.2597C>A MANE Select NP_001783.2:p.Thr866Asn
ENST00000269141.8:c.2597C>A MANE Select ENSP00000269141.3:p.Thr866Asn
NM_001308176.1:c.2504C>A NP_001295105.1:p.Thr835Asn
NM_001308176.2:c.2504C>A NP_001295105.1:p.Thr835Asn
NM_001792.3:c.2597C>A NP_001783.2:p.Thr866Asn
NM_001792.4:c.2597C>A NP_001783.2:p.Thr866Asn
ENST00000269141.7:c.2597C>A ENSP00000269141.3:p.Thr866Asn
ENST00000399380.7:c.2504C>A ENSP00000382312.3:p.Thr835Asn
ENST00000430882.6:c.2342C>A ENSP00000412120.2:p.Thr781Asn
ENST00000674998.1:n.2562C>A
ENST00000675173.1:c.1151+11080C>A
ENST00000675688.1:c.466+11080C>A
ENST00000675708.1:c.*912C>A ENSP00000501654.1:n.*912C>A
ENST00000676445.1:c.2342C>A ENSP00000502206.1:p.Thr781Asn
XM_005258181.2:c.2543C>A XP_005258238.1:p.Thr848Asn
XM_011525787.1:c.2460+11080C>A XP_011524089.1:n.2460+11080C>A
XM_011525788.1:c.2342C>A XP_011524090.1:p.Thr781Asn
XM_017025514.2:c.2514+11080C>A XP_016881003.1:n.2514+11080C>A