Canonical Allele Identifier: CA2685448937

Gene: CNTNAP2

Linked Data

• gnomAD v4: 7-147132630-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.147132630C>G , CM000669.2:g.147132630C>G	GRCh38
NC_000007.13:g.146829722C>G , CM000669.1:g.146829722C>G	GRCh37
NC_000007.12:g.146460655C>G	NCBI36
NG_007092.2:g.1021270C>G
NG_007092.3:g.1021630C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361727.8:c.1348+121C>G MANE Select	ENSP00000354778.3:n.1348+121C>G
ENST00000636561.1:n.1251+121C>G
ENST00000636870.1:n.1210+121C>G
ENST00000637150.1:n.1277+121C>G
ENST00000637694.1:n.1251+121C>G
ENST00000637825.1:n.831+121C>G
ENST00000638117.1:n.1251+121C>G
ENST00000361727.7:c.1348+121C>G	ENSP00000354778.3:n.1348+121C>G
NM_014141.5:c.1348+121C>G	NP_054860.1:n.1348+121C>G
XM_017011950.2:c.1348+121C>G	XP_016867439.1:n.1348+121C>G
NM_014141.6:c.1348+121C>G MANE Select	NP_054860.1:n.1348+121C>G