Canonical Allele Identifier: CA578592073

Gene: CNTNAP2

Linked Data

• dbSNP Id: rs1450344606
• gnomAD v2: 7-146475153-C-CTATA
• gnomAD v3: 7-146778061-C-CTATA
• gnomAD v4: 7-146778061-C-CTATA
• MyVariant Identifiers: chr7:g.146475153_146475154insTATA (hg19) ; chr7:g.146778061_146778062insTATA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.146778064_146778067dup , CM000669.2:g.146778064_146778067dup	GRCh38
NC_000007.13:g.146475156_146475159dup , CM000669.1:g.146475156_146475159dup	GRCh37
NC_000007.12:g.146106089_146106092dup	NCBI36
NG_007092.2:g.666704_666707dup
NG_007092.3:g.667064_667067dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000361727.8:c.208+3683_208+3686dup MANE Select	ENSP00000354778.3:n.208+3683_208+3686dup
ENST00000636277.1:n.75+3683_75+3686dup
ENST00000636561.1:n.111+3683_111+3686dup
ENST00000636600.1:n.58+3683_58+3686dup
ENST00000637150.1:n.137+3683_137+3686dup
ENST00000637694.1:n.111+3683_111+3686dup
ENST00000638117.1:n.111+3683_111+3686dup
ENST00000361727.7:c.208+3683_208+3686dup	ENSP00000354778.3:n.208+3683_208+3686dup
ENST00000625365.2:c.208+3683_208+3686dup	ENSP00000485955.1:n.208+3683_208+3686dup
NM_014141.5:c.208+3683_208+3686dup	NP_054860.1:n.208+3683_208+3686dup
XM_017011950.2:c.208+3683_208+3686dup	XP_016867439.1:n.208+3683_208+3686dup
NM_014141.6:c.208+3683_208+3686dup MANE Select	NP_054860.1:n.208+3683_208+3686dup