Canonical Allele Identifier: CA168690963

Gene: CNTNAP2

Linked Data

• dbSNP Id: rs539792003
• gnomAD v3: 7-147133004-G-A
• gnomAD v4: 7-147133004-G-A
• MyVariant Identifiers: chr7:g.146830096G>A (hg19) ; chr7:g.147133004G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.147133004G>A , CM000669.2:g.147133004G>A	GRCh38
NC_000007.13:g.146830096G>A , CM000669.1:g.146830096G>A	GRCh37
NC_000007.12:g.146461029G>A	NCBI36
NG_007092.2:g.1021644G>A
NG_007092.3:g.1022004G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361727.8:c.1348+495G>A MANE Select	ENSP00000354778.3:n.1348+495G>A
ENST00000636561.1:n.1251+495G>A
ENST00000636870.1:n.1210+495G>A
ENST00000637150.1:n.1277+495G>A
ENST00000637694.1:n.1251+495G>A
ENST00000637825.1:n.831+495G>A
ENST00000638117.1:n.1251+495G>A
ENST00000361727.7:c.1348+495G>A	ENSP00000354778.3:n.1348+495G>A
NM_014141.5:c.1348+495G>A	NP_054860.1:n.1348+495G>A
XM_017011950.2:c.1348+495G>A	XP_016867439.1:n.1348+495G>A
NM_014141.6:c.1348+495G>A MANE Select	NP_054860.1:n.1348+495G>A