Canonical Allele Identifier: CA1108448248

Gene: CNTNAP2

Linked Data

• dbSNP Id: rs928340846
• gnomAD v3: 7-147491550-C-G
• gnomAD v4: 7-147491550-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.147491550C>G , CM000669.2:g.147491550C>G	GRCh38
NC_000007.13:g.147188642C>G , CM000669.1:g.147188642C>G	GRCh37
NC_000007.12:g.146819575C>G	NCBI36
NG_007092.2:g.1380190C>G
NG_007092.3:g.1380550C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361727.8:c.1777+5509C>G MANE Select	ENSP00000354778.3:n.1777+5509C>G
ENST00000636870.1:n.1639+5509C>G
ENST00000637694.1:n.1681-5071C>G
ENST00000637825.1:n.1260+5509C>G
ENST00000638117.1:n.1680+5509C>G
ENST00000361727.7:c.1777+5509C>G	ENSP00000354778.3:n.1777+5509C>G
NM_014141.5:c.1777+5509C>G	NP_054860.1:n.1777+5509C>G
XM_006715919.1:c.265+5509C>G	XP_006715982.1:n.265+5509C>G
XM_017011950.2:c.1777+5509C>G	XP_016867439.1:n.1777+5509C>G
NM_014141.6:c.1777+5509C>G MANE Select	NP_054860.1:n.1777+5509C>G