Canonical Allele Identifier: CA168690908

Gene: CNTNAP2

Linked Data

• dbSNP Id: rs34456867
• gnomAD v2: 7-146829500-C-A
• gnomAD v4: 7-147132408-C-A
• MyVariant Identifiers: chr7:g.146829500C>A (hg19) ; chr7:g.147132408C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.147132408C>A , CM000669.2:g.147132408C>A	GRCh38
NC_000007.13:g.146829500C>A , CM000669.1:g.146829500C>A	GRCh37
NC_000007.12:g.146460433C>A	NCBI36
NG_007092.2:g.1021048C>A
NG_007092.3:g.1021408C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000361727.8:c.1247C>A MANE Select	ENSP00000354778.3:p.Ala416Glu
ENST00000636561.1:n.1150C>A
ENST00000636870.1:n.1109C>A
ENST00000637150.1:n.1176C>A
ENST00000637694.1:n.1150C>A
ENST00000637825.1:n.730C>A
ENST00000638117.1:n.1150C>A
ENST00000361727.7:c.1247C>A	ENSP00000354778.3:p.Ala416Glu
NM_014141.5:c.1247C>A	NP_054860.1:p.Ala416Glu
XM_017011950.2:c.1247C>A	XP_016867439.1:p.Ala416Glu
NM_014141.6:c.1247C>A MANE Select	NP_054860.1:p.Ala416Glu