Canonical Allele Identifier: CA578609785

Gene: CNTNAP2

Linked Data

• dbSNP Id: rs1343109556
• gnomAD v2: 7-146897470-G-A
• gnomAD v3: 7-147200378-G-A
• gnomAD v4: 7-147200378-G-A
• MyVariant Identifiers: chr7:g.146897470G>A (hg19) ; chr7:g.147200378G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.147200378G>A , CM000669.2:g.147200378G>A	GRCh38
NC_000007.13:g.146897470G>A , CM000669.1:g.146897470G>A	GRCh37
NC_000007.12:g.146528403G>A	NCBI36
NG_007092.2:g.1089018G>A
NG_007092.3:g.1089378G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361727.8:c.1348+67869G>A MANE Select	ENSP00000354778.3:n.1348+67869G>A
ENST00000636870.1:n.1210+67869G>A
ENST00000637694.1:n.1251+67869G>A
ENST00000637825.1:n.831+67869G>A
ENST00000638117.1:n.1251+67869G>A
ENST00000361727.7:c.1348+67869G>A	ENSP00000354778.3:n.1348+67869G>A
NM_014141.5:c.1348+67869G>A	NP_054860.1:n.1348+67869G>A
XM_017011950.2:c.1348+67869G>A	XP_016867439.1:n.1348+67869G>A
NM_014141.6:c.1348+67869G>A MANE Select	NP_054860.1:n.1348+67869G>A