Canonical Allele Identifier: CA458500695

Gene: CNTNAP2

Linked Data

• MyVariant Identifiers: chr7:g.147183027A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.147485935A>G , CM000669.2:g.147485935A>G	GRCh38
NC_000007.13:g.147183027A>G , CM000669.1:g.147183027A>G	GRCh37
NC_000007.12:g.146813960A>G	NCBI36
NG_007092.2:g.1374575A>G
NG_007092.3:g.1374935A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000361727.8:c.1671A>G MANE Select	ENSP00000354778.3:p.Arg557=
ENST00000636870.1:n.1533A>G
ENST00000637694.1:n.1574A>G
ENST00000637825.1:n.1154A>G
ENST00000638117.1:n.1574A>G
ENST00000361727.7:c.1671A>G	ENSP00000354778.3:p.Arg557=
NM_014141.5:c.1671A>G	NP_054860.1:p.Arg557=
XM_006715919.1:c.159A>G	XP_006715982.1:p.Arg53=
XM_017011950.2:c.1671A>G	XP_016867439.1:p.Arg557=
NM_014141.6:c.1671A>G MANE Select	NP_054860.1:p.Arg557=