Canonical Allele Identifier: CA168784017

Gene: CNTNAP2

Linked Data

• dbSNP Id: rs1026033736
• gnomAD v3: 7-147882750-C-T
• gnomAD v4: 7-147882750-C-T
• MyVariant Identifiers: chr7:g.147579842C>T (hg19) ; chr7:g.147882750C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.147882750C>T , CM000669.2:g.147882750C>T	GRCh38
NC_000007.13:g.147579842C>T , CM000669.1:g.147579842C>T	GRCh37
NC_000007.12:g.147210775C>T	NCBI36
NG_007092.2:g.1771390C>T
NG_007092.3:g.1771750C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361727.8:c.2099-20815C>T MANE Select	ENSP00000354778.3:n.2099-20815C>T
ENST00000636870.1:n.1961-20815C>T
ENST00000637825.1:n.1582-20815C>T
ENST00000361727.7:c.2099-20815C>T	ENSP00000354778.3:n.2099-20815C>T
ENST00000455301.2:n.34-20815C>T
ENST00000627772.2:n.272-20815C>T
NM_014141.5:c.2099-20815C>T	NP_054860.1:n.2099-20815C>T
XM_006715919.1:c.587-20815C>T	XP_006715982.1:n.587-20815C>T
NM_014141.6:c.2099-20815C>T MANE Select	NP_054860.1:n.2099-20815C>T