Canonical Allele Identifier: CA168788386

Gene: CNTNAP2

Linked Data

• dbSNP Id: rs1000291874
• gnomAD v3: 7-147918578-A-G
• gnomAD v4: 7-147918578-A-G
• MyVariant Identifiers: chr7:g.147615670A>G (hg19) ; chr7:g.147918578A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.147918578A>G , CM000669.2:g.147918578A>G	GRCh38
NC_000007.13:g.147615670A>G , CM000669.1:g.147615670A>G	GRCh37
NC_000007.12:g.147246603A>G	NCBI36
NG_007092.2:g.1807218A>G
NG_007092.3:g.1807578A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000361727.8:c.2255+14857A>G MANE Select	ENSP00000354778.3:n.2255+14857A>G
ENST00000636870.1:n.2117+14857A>G
ENST00000637825.1:n.1738+14857A>G
ENST00000361727.7:c.2255+14857A>G	ENSP00000354778.3:n.2255+14857A>G
ENST00000455301.2:n.190+14857A>G
ENST00000627772.2:n.428+14857A>G
NM_014141.5:c.2255+14857A>G	NP_054860.1:n.2255+14857A>G
XM_006715919.1:c.743+14857A>G	XP_006715982.1:n.743+14857A>G
NM_014141.6:c.2255+14857A>G MANE Select	NP_054860.1:n.2255+14857A>G