Canonical Allele Identifier: CA1750619799

Gene: CNTNAP2

Linked Data

• dbSNP Id: rs1355993536
• gnomAD v4: 7-147132592-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.147132592G>T , CM000669.2:g.147132592G>T	GRCh38
NC_000007.13:g.146829684G>T , CM000669.1:g.146829684G>T	GRCh37
NC_000007.12:g.146460617G>T	NCBI36
NG_007092.2:g.1021232G>T
NG_007092.3:g.1021592G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361727.8:c.1348+83G>T MANE Select	ENSP00000354778.3:n.1348+83G>T
ENST00000636561.1:n.1251+83G>T
ENST00000636870.1:n.1210+83G>T
ENST00000637150.1:n.1277+83G>T
ENST00000637694.1:n.1251+83G>T
ENST00000637825.1:n.831+83G>T
ENST00000638117.1:n.1251+83G>T
ENST00000361727.7:c.1348+83G>T	ENSP00000354778.3:n.1348+83G>T
NM_014141.5:c.1348+83G>T	NP_054860.1:n.1348+83G>T
XM_017011950.2:c.1348+83G>T	XP_016867439.1:n.1348+83G>T
NM_014141.6:c.1348+83G>T MANE Select	NP_054860.1:n.1348+83G>T