Canonical Allele Identifier: CA168644854

Gene: CNTNAP2

Linked Data

• dbSNP Id: rs539791104
• gnomAD v2: 7-146475386-T-A
• gnomAD v3: 7-146778294-T-A
• gnomAD v4: 7-146778294-T-A
• MyVariant Identifiers: chr7:g.146475386T>A (hg19) ; chr7:g.146778294T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.146778294T>A , CM000669.2:g.146778294T>A	GRCh38
NC_000007.13:g.146475386T>A , CM000669.1:g.146475386T>A	GRCh37
NC_000007.12:g.146106319T>A	NCBI36
NG_007092.2:g.666934T>A
NG_007092.3:g.667294T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000361727.8:c.208+3913T>A MANE Select	ENSP00000354778.3:n.208+3913T>A
ENST00000636277.1:n.75+3913T>A
ENST00000636561.1:n.111+3913T>A
ENST00000636600.1:n.58+3913T>A
ENST00000637150.1:n.137+3913T>A
ENST00000637694.1:n.111+3913T>A
ENST00000638117.1:n.111+3913T>A
ENST00000361727.7:c.208+3913T>A	ENSP00000354778.3:n.208+3913T>A
ENST00000625365.2:c.208+3913T>A	ENSP00000485955.1:n.208+3913T>A
NM_014141.5:c.208+3913T>A	NP_054860.1:n.208+3913T>A
XM_017011950.2:c.208+3913T>A	XP_016867439.1:n.208+3913T>A
NM_014141.6:c.208+3913T>A MANE Select	NP_054860.1:n.208+3913T>A