Canonical Allele Identifier: CA14613629

Gene: CDH2

Linked Data

• dbSNP Id: rs12605662
• gnomAD v2: 18-25751666-G-A
• gnomAD v3: 18-28171702-G-A
• gnomAD v4: 18-28171702-G-A
• MyVariant Identifiers: chr18:g.25751666G>A (hg19) ; chr18:g.28171702G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.28171702G>A , CM000680.2:g.28171702G>A	GRCh38
NC_000018.9:g.25751666G>A , CM000680.1:g.25751666G>A	GRCh37
NC_000018.8:g.24005664G>A	NCBI36
NG_011959.1:g.10780C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000269141.8:c.60+5261C>T MANE Select	ENSP00000269141.3:n.60+5261C>T
ENST00000413878.2:c.-343+5261C>T	ENSP00000414269.2:n.-343+5261C>T
ENST00000430882.6:c.-388+5261C>T	ENSP00000412120.2:n.-388+5261C>T
ENST00000675708.1:c.-196+5261C>T	ENSP00000501654.1:n.-196+5261C>T
ENST00000676445.1:c.-196+6161C>T	ENSP00000502206.1:n.-196+6161C>T
ENST00000269141.7:c.60+5261C>T	ENSP00000269141.3:n.60+5261C>T
NM_001792.3:c.60+5261C>T	NP_001783.2:n.60+5261C>T
NM_001792.4:c.60+5261C>T	NP_001783.2:n.60+5261C>T
XM_017025514.2:c.60+5261C>T	XP_016881003.1:n.60+5261C>T
NM_001792.5:c.60+5261C>T MANE Select	NP_001783.2:n.60+5261C>T