Canonical Allele Identifier: CA369925523

Gene: CNTNAP2

Linked Data

• MyVariant Identifiers: chr7:g.147092765G>C (hg19) ; chr7:g.147395673G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.147395673G>C , CM000669.2:g.147395673G>C	GRCh38
NC_000007.13:g.147092765G>C , CM000669.1:g.147092765G>C	GRCh37
NC_000007.12:g.146723698G>C	NCBI36
NG_007092.2:g.1284313G>C
NG_007092.3:g.1284673G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000361727.8:c.1563G>C MANE Select	ENSP00000354778.3:p.Met521Ile
ENST00000636870.1:n.1425G>C
ENST00000637694.1:n.1466G>C
ENST00000637825.1:n.1046G>C
ENST00000638117.1:n.1466G>C
ENST00000361727.7:c.1563G>C	ENSP00000354778.3:p.Met521Ile
NM_014141.5:c.1563G>C	NP_054860.1:p.Met521Ile
XM_006715919.1:c.51G>C	XP_006715982.1:p.Met17Ile
XM_017011950.2:c.1563G>C	XP_016867439.1:p.Met521Ile
NM_014141.6:c.1563G>C MANE Select	NP_054860.1:p.Met521Ile