Canonical Allele Identifier: CA168745643

Gene: CNTNAP2

Linked Data

• dbSNP Id: rs1010201541
• MyVariant Identifiers: chr7:g.147268222A>T (hg19) ; chr7:g.147571130A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.147571130A>T , CM000669.2:g.147571130A>T	GRCh38
NC_000007.13:g.147268222A>T , CM000669.1:g.147268222A>T	GRCh37
NC_000007.12:g.146899155A>T	NCBI36
NG_007092.2:g.1459770A>T
NG_007092.3:g.1460130A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361727.8:c.1897+8873A>T MANE Select	ENSP00000354778.3:n.1897+8873A>T
ENST00000636870.1:n.1759+8873A>T
ENST00000637825.1:n.1380+8873A>T
ENST00000638117.1:n.1800+8873A>T
ENST00000361727.7:c.1897+8873A>T	ENSP00000354778.3:n.1897+8873A>T
NM_014141.5:c.1897+8873A>T	NP_054860.1:n.1897+8873A>T
XM_006715919.1:c.385+8873A>T	XP_006715982.1:n.385+8873A>T
XM_017011950.2:c.1897+8873A>T	XP_016867439.1:n.1897+8873A>T
NM_014141.6:c.1897+8873A>T MANE Select	NP_054860.1:n.1897+8873A>T