Canonical Allele Identifier: CA168600549

Gene: CNTNAP2

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.146425696T>C , CM000669.2:g.146425696T>C	GRCh38
NC_000007.13:g.146122788T>C , CM000669.1:g.146122788T>C	GRCh37
NC_000007.12:g.145753721T>C	NCBI36
NG_007092.2:g.314336T>C
NG_007092.3:g.314696T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361727.8:c.97+308723T>C MANE Select	ENSP00000354778.3:n.97+308723T>C
ENST00000637150.1:n.26+308723T>C
ENST00000361727.7:c.97+308723T>C	ENSP00000354778.3:n.97+308723T>C
ENST00000625365.2:c.97+308723T>C	ENSP00000485955.1:n.97+308723T>C
NM_014141.5:c.97+308723T>C	NP_054860.1:n.97+308723T>C
XM_017011950.2:c.97+308723T>C	XP_016867439.1:n.97+308723T>C
NM_014141.6:c.97+308723T>C MANE Select	NP_054860.1:n.97+308723T>C