Canonical Allele Identifier: CA369924459

Gene: CNTNAP2

Linked Data

• gnomAD v4: 7-147132249-A-C
• MyVariant Identifiers: chr7:g.146829341A>C (hg19) ; chr7:g.147132249A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.147132249A>C , CM000669.2:g.147132249A>C	GRCh38
NC_000007.13:g.146829341A>C , CM000669.1:g.146829341A>C	GRCh37
NC_000007.12:g.146460274A>C	NCBI36
NG_007092.2:g.1020889A>C
NG_007092.3:g.1021249A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000361727.8:c.1088A>C MANE Select	ENSP00000354778.3:p.Asn363Thr
ENST00000636561.1:n.991A>C
ENST00000636870.1:n.950A>C
ENST00000637150.1:n.1017A>C
ENST00000637694.1:n.991A>C
ENST00000637825.1:n.571A>C
ENST00000638117.1:n.991A>C
ENST00000361727.7:c.1088A>C	ENSP00000354778.3:p.Asn363Thr
NM_014141.5:c.1088A>C	NP_054860.1:p.Asn363Thr
XM_017011950.2:c.1088A>C	XP_016867439.1:p.Asn363Thr
NM_014141.6:c.1088A>C MANE Select	NP_054860.1:p.Asn363Thr