Canonical Allele Identifier: CA168644841

Gene: CNTNAP2

Linked Data

• dbSNP Id: rs182989243
• gnomAD v2: 7-146475274-G-A
• gnomAD v3: 7-146778182-G-A
• gnomAD v4: 7-146778182-G-A
• MyVariant Identifiers: chr7:g.146475274G>A (hg19) ; chr7:g.146778182G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.146778182G>A , CM000669.2:g.146778182G>A	GRCh38
NC_000007.13:g.146475274G>A , CM000669.1:g.146475274G>A	GRCh37
NC_000007.12:g.146106207G>A	NCBI36
NG_007092.2:g.666822G>A
NG_007092.3:g.667182G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361727.8:c.208+3801G>A MANE Select	ENSP00000354778.3:n.208+3801G>A
ENST00000636277.1:n.75+3801G>A
ENST00000636561.1:n.111+3801G>A
ENST00000636600.1:n.58+3801G>A
ENST00000637150.1:n.137+3801G>A
ENST00000637694.1:n.111+3801G>A
ENST00000638117.1:n.111+3801G>A
ENST00000361727.7:c.208+3801G>A	ENSP00000354778.3:n.208+3801G>A
ENST00000625365.2:c.208+3801G>A	ENSP00000485955.1:n.208+3801G>A
NM_014141.5:c.208+3801G>A	NP_054860.1:n.208+3801G>A
XM_017011950.2:c.208+3801G>A	XP_016867439.1:n.208+3801G>A
NM_014141.6:c.208+3801G>A MANE Select	NP_054860.1:n.208+3801G>A