Canonical Allele Identifier: CA1108420869

Gene: CNTNAP2

Linked Data

• dbSNP Id: rs1802664841
• gnomAD v3: 7-147190815-A-AT
• gnomAD v4: 7-147190815-A-AT

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.147190817dup , CM000669.2:g.147190817dup	GRCh38
NC_000007.13:g.146887909dup , CM000669.1:g.146887909dup	GRCh37
NC_000007.12:g.146518842dup	NCBI36
NG_007092.2:g.1079457dup
NG_007092.3:g.1079817dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000361727.8:c.1348+58308dup MANE Select	ENSP00000354778.3:n.1348+58308dup
ENST00000636870.1:n.1210+58308dup
ENST00000637694.1:n.1251+58308dup
ENST00000637825.1:n.831+58308dup
ENST00000638117.1:n.1251+58308dup
ENST00000361727.7:c.1348+58308dup	ENSP00000354778.3:n.1348+58308dup
NM_014141.5:c.1348+58308dup	NP_054860.1:n.1348+58308dup
XM_017011950.2:c.1348+58308dup	XP_016867439.1:n.1348+58308dup
NM_014141.6:c.1348+58308dup MANE Select	NP_054860.1:n.1348+58308dup