Canonical Allele Identifier: CA402101621
Community Standard Title: NM_001792.5(CDH2):c.2528C>T (p.Ala843Val)
Gene: CDH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.27952346G>A , CM000680.2:g.27952346G>A GRCh38
NC_000018.9:g.25532310G>A , CM000680.1:g.25532310G>A GRCh37
NC_000018.8:g.23786308G>A NCBI36
NG_011959.1:g.230136C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001792.5:c.2528C>T MANE Select NP_001783.2:p.Ala843Val
ENST00000269141.8:c.2528C>T MANE Select ENSP00000269141.3:p.Ala843Val
NM_001308176.1:c.2435C>T NP_001295105.1:p.Ala812Val
NM_001308176.2:c.2435C>T NP_001295105.1:p.Ala812Val
NM_001792.3:c.2528C>T NP_001783.2:p.Ala843Val
NM_001792.4:c.2528C>T NP_001783.2:p.Ala843Val
ENST00000269141.7:c.2528C>T ENSP00000269141.3:p.Ala843Val
ENST00000399380.7:c.2435C>T ENSP00000382312.3:p.Ala812Val
ENST00000430882.6:c.2273C>T ENSP00000412120.2:p.Ala758Val
ENST00000674998.1:n.2493C>T
ENST00000675173.1:c.1151+11011C>T
ENST00000675688.1:c.466+11011C>T
ENST00000675708.1:c.*843C>T ENSP00000501654.1:n.*843C>T
ENST00000676445.1:c.2273C>T ENSP00000502206.1:p.Ala758Val
XM_005258181.2:c.2474C>T XP_005258238.1:p.Ala825Val
XM_011525787.1:c.2460+11011C>T XP_011524089.1:n.2460+11011C>T
XM_011525788.1:c.2273C>T XP_011524090.1:p.Ala758Val
XM_017025514.2:c.2514+11011C>T XP_016881003.1:n.2514+11011C>T