Canonical Allele Identifier: CA369925801

Gene: CNTNAP2

Linked Data

• MyVariant Identifiers: chr7:g.147183031G>T (hg19) ; chr7:g.147485939G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.147485939G>T , CM000669.2:g.147485939G>T	GRCh38
NC_000007.13:g.147183031G>T , CM000669.1:g.147183031G>T	GRCh37
NC_000007.12:g.146813964G>T	NCBI36
NG_007092.2:g.1374579G>T
NG_007092.3:g.1374939G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000361727.8:c.1675G>T MANE Select	ENSP00000354778.3:p.Val559Leu
ENST00000636870.1:n.1537G>T
ENST00000637694.1:n.1578G>T
ENST00000637825.1:n.1158G>T
ENST00000638117.1:n.1578G>T
ENST00000361727.7:c.1675G>T	ENSP00000354778.3:p.Val559Leu
NM_014141.5:c.1675G>T	NP_054860.1:p.Val559Leu
XM_006715919.1:c.163G>T	XP_006715982.1:p.Val55Leu
XM_017011950.2:c.1675G>T	XP_016867439.1:p.Val559Leu
NM_014141.6:c.1675G>T MANE Select	NP_054860.1:p.Val559Leu