Canonical Allele Identifier: CA458507185

Gene: CNTNAP2

Linked Data

• MyVariant Identifiers: chr7:g.147844641G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.148147549G>T , CM000669.2:g.148147549G>T	GRCh38
NC_000007.13:g.147844641G>T , CM000669.1:g.147844641G>T	GRCh37
NC_000007.12:g.147475574G>T	NCBI36
NG_007092.2:g.2036189G>T
NG_007092.3:g.2036549G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000361727.8:c.2613G>T MANE Select	ENSP00000354778.3:p.Val871=
ENST00000636870.1:n.2475G>T
ENST00000637020.1:n.431G>T
ENST00000361727.7:c.2613G>T	ENSP00000354778.3:p.Val871=
ENST00000627772.2:n.786G>T
ENST00000628930.2:c.-211G>T	ENSP00000487516.1:n.-211G>T
ENST00000631199.2:n.342G>T
NM_014141.5:c.2613G>T	NP_054860.1:p.Val871=
XM_006715919.1:c.1101G>T	XP_006715982.1:p.Val367=
XR_928095.1:n.214+7628C>A
NM_014141.6:c.2613G>T MANE Select	NP_054860.1:p.Val871=