Canonical Allele Identifier: CA834786461

Gene: CNTNAP2

Linked Data

• dbSNP Id: rs1462179833
• gnomAD v3: 7-146792250-C-A
• gnomAD v4: 7-146792250-C-A
• MyVariant Identifiers: chr7:g.146489342C>A (hg19) ; chr7:g.146792250C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.146792250C>A , CM000669.2:g.146792250C>A	GRCh38
NC_000007.13:g.146489342C>A , CM000669.1:g.146489342C>A	GRCh37
NC_000007.12:g.146120275C>A	NCBI36
NG_007092.2:g.680890C>A
NG_007092.3:g.681250C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361727.8:c.208+17869C>A MANE Select	ENSP00000354778.3:n.208+17869C>A
ENST00000636561.1:n.111+17869C>A
ENST00000637150.1:n.137+17869C>A
ENST00000637694.1:n.111+17869C>A
ENST00000638117.1:n.111+17869C>A
ENST00000361727.7:c.208+17869C>A	ENSP00000354778.3:n.208+17869C>A
ENST00000625365.2:c.208+17869C>A	ENSP00000485955.1:n.208+17869C>A
NM_014141.5:c.208+17869C>A	NP_054860.1:n.208+17869C>A
XM_017011950.2:c.208+17869C>A	XP_016867439.1:n.208+17869C>A
NM_014141.6:c.208+17869C>A MANE Select	NP_054860.1:n.208+17869C>A