Canonical Allele Identifier: CA369924735

Gene: CNTNAP2

Linked Data

• MyVariant Identifiers: chr7:g.146829469C>A (hg19) ; chr7:g.147132377C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.147132377C>A , CM000669.2:g.147132377C>A	GRCh38
NC_000007.13:g.146829469C>A , CM000669.1:g.146829469C>A	GRCh37
NC_000007.12:g.146460402C>A	NCBI36
NG_007092.2:g.1021017C>A
NG_007092.3:g.1021377C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361727.8:c.1216C>A MANE Select	ENSP00000354778.3:p.Pro406Thr
ENST00000636561.1:n.1119C>A
ENST00000636870.1:n.1078C>A
ENST00000637150.1:n.1145C>A
ENST00000637694.1:n.1119C>A
ENST00000637825.1:n.699C>A
ENST00000638117.1:n.1119C>A
ENST00000361727.7:c.1216C>A	ENSP00000354778.3:p.Pro406Thr
NM_014141.5:c.1216C>A	NP_054860.1:p.Pro406Thr
XM_017011950.2:c.1216C>A	XP_016867439.1:p.Pro406Thr
NM_014141.6:c.1216C>A MANE Select	NP_054860.1:p.Pro406Thr