Canonical Allele Identifier: CA834914523

Gene: CNTNAP2

Linked Data

• dbSNP Id: rs1182692726
• gnomAD v3: 7-147882533-G-A
• gnomAD v4: 7-147882533-G-A
• MyVariant Identifiers: chr7:g.147579625G>A (hg19) ; chr7:g.147882533G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.147882533G>A , CM000669.2:g.147882533G>A	GRCh38
NC_000007.13:g.147579625G>A , CM000669.1:g.147579625G>A	GRCh37
NC_000007.12:g.147210558G>A	NCBI36
NG_007092.2:g.1771173G>A
NG_007092.3:g.1771533G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000361727.8:c.2099-21032G>A MANE Select	ENSP00000354778.3:n.2099-21032G>A
ENST00000636870.1:n.1961-21032G>A
ENST00000637825.1:n.1582-21032G>A
ENST00000361727.7:c.2099-21032G>A	ENSP00000354778.3:n.2099-21032G>A
ENST00000455301.2:n.34-21032G>A
ENST00000627772.2:n.272-21032G>A
NM_014141.5:c.2099-21032G>A	NP_054860.1:n.2099-21032G>A
XM_006715919.1:c.587-21032G>A	XP_006715982.1:n.587-21032G>A
NM_014141.6:c.2099-21032G>A MANE Select	NP_054860.1:n.2099-21032G>A