Canonical Allele Identifier: CA1108473021

Gene: CNTNAP2

Linked Data

• dbSNP Id: rs1799925773
• gnomAD v3: 7-147904492-A-G
• gnomAD v4: 7-147904492-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.147904492A>G , CM000669.2:g.147904492A>G	GRCh38
NC_000007.13:g.147601584A>G , CM000669.1:g.147601584A>G	GRCh37
NC_000007.12:g.147232517A>G	NCBI36
NG_007092.2:g.1793132A>G
NG_007092.3:g.1793492A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361727.8:c.2255+771A>G MANE Select	ENSP00000354778.3:n.2255+771A>G
ENST00000636870.1:n.2117+771A>G
ENST00000637825.1:n.1738+771A>G
ENST00000361727.7:c.2255+771A>G	ENSP00000354778.3:n.2255+771A>G
ENST00000455301.2:n.190+771A>G
ENST00000627772.2:n.428+771A>G
NM_014141.5:c.2255+771A>G	NP_054860.1:n.2255+771A>G
XM_006715919.1:c.743+771A>G	XP_006715982.1:n.743+771A>G
NM_014141.6:c.2255+771A>G MANE Select	NP_054860.1:n.2255+771A>G