Canonical Allele Identifier: CA402101261
Community Standard Title: NM_001792.5(CDH2):c.2615C>G (p.Ser872Cys)
Gene: CDH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.27952259G>C , CM000680.2:g.27952259G>C GRCh38
NC_000018.9:g.25532223G>C , CM000680.1:g.25532223G>C GRCh37
NC_000018.8:g.23786221G>C NCBI36
NG_011959.1:g.230223C>G

Transcript Alleles

HGVS Amino-acid Change
NM_001792.5:c.2615C>G MANE Select NP_001783.2:p.Ser872Cys
ENST00000269141.8:c.2615C>G MANE Select ENSP00000269141.3:p.Ser872Cys
NM_001308176.1:c.2522C>G NP_001295105.1:p.Ser841Cys
NM_001308176.2:c.2522C>G NP_001295105.1:p.Ser841Cys
NM_001792.3:c.2615C>G NP_001783.2:p.Ser872Cys
NM_001792.4:c.2615C>G NP_001783.2:p.Ser872Cys
ENST00000269141.7:c.2615C>G ENSP00000269141.3:p.Ser872Cys
ENST00000399380.7:c.2522C>G ENSP00000382312.3:p.Ser841Cys
ENST00000430882.6:c.2360C>G ENSP00000412120.2:p.Ser787Cys
ENST00000674998.1:n.2580C>G
ENST00000675173.1:c.1151+11098C>G
ENST00000675688.1:c.466+11098C>G
ENST00000675708.1:c.*930C>G ENSP00000501654.1:n.*930C>G
ENST00000676445.1:c.2360C>G ENSP00000502206.1:p.Ser787Cys
XM_005258181.2:c.2561C>G XP_005258238.1:p.Ser854Cys
XM_011525787.1:c.2460+11098C>G XP_011524089.1:n.2460+11098C>G
XM_011525788.1:c.2360C>G XP_011524090.1:p.Ser787Cys
XM_017025514.2:c.2514+11098C>G XP_016881003.1:n.2514+11098C>G