Canonical Allele Identifier: CA2685448919

Gene: CNTNAP2

Linked Data

• gnomAD v4: 7-147132598-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.147132598C>G , CM000669.2:g.147132598C>G	GRCh38
NC_000007.13:g.146829690C>G , CM000669.1:g.146829690C>G	GRCh37
NC_000007.12:g.146460623C>G	NCBI36
NG_007092.2:g.1021238C>G
NG_007092.3:g.1021598C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361727.8:c.1348+89C>G MANE Select	ENSP00000354778.3:n.1348+89C>G
ENST00000636561.1:n.1251+89C>G
ENST00000636870.1:n.1210+89C>G
ENST00000637150.1:n.1277+89C>G
ENST00000637694.1:n.1251+89C>G
ENST00000637825.1:n.831+89C>G
ENST00000638117.1:n.1251+89C>G
ENST00000361727.7:c.1348+89C>G	ENSP00000354778.3:n.1348+89C>G
NM_014141.5:c.1348+89C>G	NP_054860.1:n.1348+89C>G
XM_017011950.2:c.1348+89C>G	XP_016867439.1:n.1348+89C>G
NM_014141.6:c.1348+89C>G MANE Select	NP_054860.1:n.1348+89C>G