Canonical Allele Identifier: CA168784025

Gene: CNTNAP2

Linked Data

• dbSNP Id: rs965320274
• gnomAD v2: 7-147579878-G-T
• gnomAD v3: 7-147882786-G-T
• gnomAD v4: 7-147882786-G-T
• MyVariant Identifiers: chr7:g.147579878G>T (hg19) ; chr7:g.147882786G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.147882786G>T , CM000669.2:g.147882786G>T	GRCh38
NC_000007.13:g.147579878G>T , CM000669.1:g.147579878G>T	GRCh37
NC_000007.12:g.147210811G>T	NCBI36
NG_007092.2:g.1771426G>T
NG_007092.3:g.1771786G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361727.8:c.2099-20779G>T MANE Select	ENSP00000354778.3:n.2099-20779G>T
ENST00000636870.1:n.1961-20779G>T
ENST00000637825.1:n.1582-20779G>T
ENST00000361727.7:c.2099-20779G>T	ENSP00000354778.3:n.2099-20779G>T
ENST00000455301.2:n.34-20779G>T
ENST00000627772.2:n.272-20779G>T
NM_014141.5:c.2099-20779G>T	NP_054860.1:n.2099-20779G>T
XM_006715919.1:c.587-20779G>T	XP_006715982.1:n.587-20779G>T
NM_014141.6:c.2099-20779G>T MANE Select	NP_054860.1:n.2099-20779G>T