Canonical Allele Identifier: CA168690919

Gene: CNTNAP2

Linked Data

• dbSNP Id: rs976492311
• gnomAD v3: 7-147132597-A-T
• gnomAD v4: 7-147132597-A-T
• MyVariant Identifiers: chr7:g.146829689A>T (hg19) ; chr7:g.147132597A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.147132597A>T , CM000669.2:g.147132597A>T	GRCh38
NC_000007.13:g.146829689A>T , CM000669.1:g.146829689A>T	GRCh37
NC_000007.12:g.146460622A>T	NCBI36
NG_007092.2:g.1021237A>T
NG_007092.3:g.1021597A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361727.8:c.1348+88A>T MANE Select	ENSP00000354778.3:n.1348+88A>T
ENST00000636561.1:n.1251+88A>T
ENST00000636870.1:n.1210+88A>T
ENST00000637150.1:n.1277+88A>T
ENST00000637694.1:n.1251+88A>T
ENST00000637825.1:n.831+88A>T
ENST00000638117.1:n.1251+88A>T
ENST00000361727.7:c.1348+88A>T	ENSP00000354778.3:n.1348+88A>T
NM_014141.5:c.1348+88A>T	NP_054860.1:n.1348+88A>T
XM_017011950.2:c.1348+88A>T	XP_016867439.1:n.1348+88A>T
NM_014141.6:c.1348+88A>T MANE Select	NP_054860.1:n.1348+88A>T