Canonical Allele Identifier: CA369924592

Gene: CNTNAP2

Linked Data

• gnomAD v4: 7-147132312-T-A
• MyVariant Identifiers: chr7:g.146829404T>A (hg19) ; chr7:g.147132312T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.147132312T>A , CM000669.2:g.147132312T>A	GRCh38
NC_000007.13:g.146829404T>A , CM000669.1:g.146829404T>A	GRCh37
NC_000007.12:g.146460337T>A	NCBI36
NG_007092.2:g.1020952T>A
NG_007092.3:g.1021312T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000361727.8:c.1151T>A MANE Select	ENSP00000354778.3:p.Leu384Gln
ENST00000636561.1:n.1054T>A
ENST00000636870.1:n.1013T>A
ENST00000637150.1:n.1080T>A
ENST00000637694.1:n.1054T>A
ENST00000637825.1:n.634T>A
ENST00000638117.1:n.1054T>A
ENST00000361727.7:c.1151T>A	ENSP00000354778.3:p.Leu384Gln
NM_014141.5:c.1151T>A	NP_054860.1:p.Leu384Gln
XM_017011950.2:c.1151T>A	XP_016867439.1:p.Leu384Gln
NM_014141.6:c.1151T>A MANE Select	NP_054860.1:p.Leu384Gln