Canonical Allele Identifier: CA8923137
Community Standard Title: NM_001792.5(CDH2):c.2511T>C (p.Asn837=)
Gene: CDH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.27963360A>G , CM000680.2:g.27963360A>G GRCh38
NC_000018.9:g.25543324A>G , CM000680.1:g.25543324A>G GRCh37
NC_000018.8:g.23797322A>G NCBI36
NG_011959.1:g.219122T>C

Transcript Alleles

HGVS Amino-acid Change
NM_001792.5:c.2511T>C MANE Select NP_001783.2:p.Asn837=
ENST00000269141.8:c.2511T>C MANE Select ENSP00000269141.3:p.Asn837=
NM_001308176.1:c.2418T>C NP_001295105.1:p.Asn806=
NM_001308176.2:c.2418T>C NP_001295105.1:p.Asn806=
NM_001792.3:c.2511T>C NP_001783.2:p.Asn837=
NM_001792.4:c.2511T>C NP_001783.2:p.Asn837=
ENST00000269141.7:c.2511T>C ENSP00000269141.3:p.Asn837=
ENST00000399380.7:c.2418T>C ENSP00000382312.3:p.Asn806=
ENST00000430882.6:c.2256T>C ENSP00000412120.2:p.Asn752=
ENST00000674998.1:n.2476T>C
ENST00000675173.1:c.1148T>C
ENST00000675688.1:c.463T>C
ENST00000675708.1:c.*826T>C ENSP00000501654.1:n.*826T>C
ENST00000676041.1:n.2242T>C
ENST00000676445.1:c.2256T>C ENSP00000502206.1:p.Asn752=
XM_005258181.2:c.2457T>C XP_005258238.1:p.Asn819=
XM_011525787.1:c.2457T>C XP_011524089.1:p.Asn819=
XM_011525788.1:c.2256T>C XP_011524090.1:p.Asn752=
XM_017025514.2:c.2511T>C XP_016881003.1:p.Asn837=