Canonical Allele Identifier: CA1108356492

Gene: CNTNAP2

Linked Data

• dbSNP Id: rs1802690920
• gnomAD v3: 7-146792420-A-G
• gnomAD v4: 7-146792420-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.146792420A>G , CM000669.2:g.146792420A>G	GRCh38
NC_000007.13:g.146489512A>G , CM000669.1:g.146489512A>G	GRCh37
NC_000007.12:g.146120445A>G	NCBI36
NG_007092.2:g.681060A>G
NG_007092.3:g.681420A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000361727.8:c.208+18039A>G MANE Select	ENSP00000354778.3:n.208+18039A>G
ENST00000636561.1:n.111+18039A>G
ENST00000637150.1:n.137+18039A>G
ENST00000637694.1:n.111+18039A>G
ENST00000638117.1:n.111+18039A>G
ENST00000361727.7:c.208+18039A>G	ENSP00000354778.3:n.208+18039A>G
ENST00000625365.2:c.208+18039A>G	ENSP00000485955.1:n.208+18039A>G
NM_014141.5:c.208+18039A>G	NP_054860.1:n.208+18039A>G
XM_017011950.2:c.208+18039A>G	XP_016867439.1:n.208+18039A>G
NM_014141.6:c.208+18039A>G MANE Select	NP_054860.1:n.208+18039A>G