Canonical Allele Identifier: CA402101537

Gene: CDH2

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.27952325G>A , CM000680.2:g.27952325G>A	GRCh38
NC_000018.9:g.25532289G>A , CM000680.1:g.25532289G>A	GRCh37
NC_000018.8:g.23786287G>A	NCBI36
NG_011959.1:g.230157C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001792.5:c.2549C>T MANE Select	NP_001783.2:p.Pro850Leu
ENST00000269141.8:c.2549C>T MANE Select	ENSP00000269141.3:p.Pro850Leu
NM_001308176.1:c.2456C>T	NP_001295105.1:p.Pro819Leu
NM_001308176.2:c.2456C>T	NP_001295105.1:p.Pro819Leu
NM_001792.3:c.2549C>T	NP_001783.2:p.Pro850Leu
NM_001792.4:c.2549C>T	NP_001783.2:p.Pro850Leu
ENST00000269141.7:c.2549C>T	ENSP00000269141.3:p.Pro850Leu
ENST00000399380.7:c.2456C>T	ENSP00000382312.3:p.Pro819Leu
ENST00000430882.6:c.2294C>T	ENSP00000412120.2:p.Pro765Leu
ENST00000674998.1:n.2514C>T
ENST00000675173.1:c.1151+11032C>T
ENST00000675688.1:c.466+11032C>T
ENST00000675708.1:c.*864C>T	ENSP00000501654.1:n.*864C>T
ENST00000676445.1:c.2294C>T	ENSP00000502206.1:p.Pro765Leu
XM_005258181.2:c.2495C>T	XP_005258238.1:p.Pro832Leu
XM_011525787.1:c.2460+11032C>T	XP_011524089.1:n.2460+11032C>T
XM_011525788.1:c.2294C>T	XP_011524090.1:p.Pro765Leu
XM_017025514.2:c.2514+11032C>T	XP_016881003.1:n.2514+11032C>T