Canonical Allele Identifier: CA834786574

Gene: CNTNAP2

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.146792351T>A , CM000669.2:g.146792351T>A	GRCh38
NC_000007.13:g.146489443T>A , CM000669.1:g.146489443T>A	GRCh37
NC_000007.12:g.146120376T>A	NCBI36
NG_007092.2:g.680991T>A
NG_007092.3:g.681351T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361727.8:c.208+17970T>A MANE Select	ENSP00000354778.3:n.208+17970T>A
ENST00000636561.1:n.111+17970T>A
ENST00000637150.1:n.137+17970T>A
ENST00000637694.1:n.111+17970T>A
ENST00000638117.1:n.111+17970T>A
ENST00000361727.7:c.208+17970T>A	ENSP00000354778.3:n.208+17970T>A
ENST00000625365.2:c.208+17970T>A	ENSP00000485955.1:n.208+17970T>A
NM_014141.5:c.208+17970T>A	NP_054860.1:n.208+17970T>A
XM_017011950.2:c.208+17970T>A	XP_016867439.1:n.208+17970T>A
NM_014141.6:c.208+17970T>A MANE Select	NP_054860.1:n.208+17970T>A