Canonical Allele Identifier: CA834860253

Gene: CNTNAP2

Linked Data

• dbSNP Id: rs1424456167
• gnomAD v3: 7-147132792-C-G
• gnomAD v4: 7-147132792-C-G
• MyVariant Identifiers: chr7:g.146829884C>G (hg19) ; chr7:g.147132792C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.147132792C>G , CM000669.2:g.147132792C>G	GRCh38
NC_000007.13:g.146829884C>G , CM000669.1:g.146829884C>G	GRCh37
NC_000007.12:g.146460817C>G	NCBI36
NG_007092.2:g.1021432C>G
NG_007092.3:g.1021792C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361727.8:c.1348+283C>G MANE Select	ENSP00000354778.3:n.1348+283C>G
ENST00000636561.1:n.1251+283C>G
ENST00000636870.1:n.1210+283C>G
ENST00000637150.1:n.1277+283C>G
ENST00000637694.1:n.1251+283C>G
ENST00000637825.1:n.831+283C>G
ENST00000638117.1:n.1251+283C>G
ENST00000361727.7:c.1348+283C>G	ENSP00000354778.3:n.1348+283C>G
NM_014141.5:c.1348+283C>G	NP_054860.1:n.1348+283C>G
XM_017011950.2:c.1348+283C>G	XP_016867439.1:n.1348+283C>G
NM_014141.6:c.1348+283C>G MANE Select	NP_054860.1:n.1348+283C>G