Canonical Allele Identifier: CA12524549

Gene: CNTNAP2

Linked Data - Predicted Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.147900074T>C , CM000669.2:g.147900074T>C	GRCh38
NC_000007.13:g.147597166T>C , CM000669.1:g.147597166T>C	GRCh37
NC_000007.12:g.147228099T>C	NCBI36
NG_007092.2:g.1788714T>C
NG_007092.3:g.1789074T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361727.8:c.2099-3491T>C MANE Select	ENSP00000354778.3:n.2099-3491T>C
ENST00000636755.1:n.45+3001T>C
ENST00000636870.1:n.1961-3491T>C
ENST00000637654.1:n.63-3491T>C
ENST00000637825.1:n.1582-3491T>C
ENST00000361727.7:c.2099-3491T>C	ENSP00000354778.3:n.2099-3491T>C
ENST00000455301.2:n.34-3491T>C
ENST00000627772.2:n.272-3491T>C
NM_014141.5:c.2099-3491T>C	NP_054860.1:n.2099-3491T>C
XM_006715919.1:c.587-3491T>C	XP_006715982.1:n.587-3491T>C
NM_014141.6:c.2099-3491T>C MANE Select	NP_054860.1:n.2099-3491T>C