Canonical Allele Identifier: CA12487450

Gene: CNTNAP2

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.147829814C>T , CM000669.2:g.147829814C>T	GRCh38
NC_000007.13:g.147526906C>T , CM000669.1:g.147526906C>T	GRCh37
NC_000007.12:g.147157839C>T	NCBI36
NG_007092.2:g.1718454C>T
NG_007092.3:g.1718814C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361727.8:c.2099-73751C>T MANE Select	ENSP00000354778.3:n.2099-73751C>T
ENST00000636870.1:n.1961-73751C>T
ENST00000637825.1:n.1582-73751C>T
ENST00000361727.7:c.2099-73751C>T	ENSP00000354778.3:n.2099-73751C>T
ENST00000455301.2:n.34-73751C>T
ENST00000627772.2:n.272-73751C>T
NM_014141.5:c.2099-73751C>T	NP_054860.1:n.2099-73751C>T
XM_006715919.1:c.587-73751C>T	XP_006715982.1:n.587-73751C>T
NM_014141.6:c.2099-73751C>T MANE Select	NP_054860.1:n.2099-73751C>T