Canonical Allele Identifier: CA8923100
Community Standard Title: NM_001792.5(CDH2):c.2630G>C (p.Ser877Thr)
Gene: CDH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.27952244C>G , CM000680.2:g.27952244C>G GRCh38
NC_000018.9:g.25532208C>G , CM000680.1:g.25532208C>G GRCh37
NC_000018.8:g.23786206C>G NCBI36
NG_011959.1:g.230238G>C

Transcript Alleles

HGVS Amino-acid Change
NM_001792.5:c.2630G>C MANE Select NP_001783.2:p.Ser877Thr
ENST00000269141.8:c.2630G>C MANE Select ENSP00000269141.3:p.Ser877Thr
NM_001308176.1:c.2537G>C NP_001295105.1:p.Ser846Thr
NM_001308176.2:c.2537G>C NP_001295105.1:p.Ser846Thr
NM_001792.3:c.2630G>C NP_001783.2:p.Ser877Thr
NM_001792.4:c.2630G>C NP_001783.2:p.Ser877Thr
ENST00000269141.7:c.2630G>C ENSP00000269141.3:p.Ser877Thr
ENST00000399380.7:c.2537G>C ENSP00000382312.3:p.Ser846Thr
ENST00000430882.6:c.2375G>C ENSP00000412120.2:p.Ser792Thr
ENST00000674998.1:n.2595G>C
ENST00000675173.1:c.1151+11113G>C
ENST00000675688.1:c.466+11113G>C
ENST00000675708.1:c.*945G>C ENSP00000501654.1:n.*945G>C
ENST00000676445.1:c.2375G>C ENSP00000502206.1:p.Ser792Thr
XM_005258181.2:c.2576G>C XP_005258238.1:p.Ser859Thr
XM_011525787.1:c.2460+11113G>C XP_011524089.1:n.2460+11113G>C
XM_011525788.1:c.2375G>C XP_011524090.1:p.Ser792Thr
XM_017025514.2:c.2514+11113G>C XP_016881003.1:n.2514+11113G>C