Canonical Allele Identifier: CA1108463222

Gene: CNTNAP2

Linked Data

• dbSNP Id: rs1799537090
• gnomAD v3: 7-147882470-C-T
• gnomAD v4: 7-147882470-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.147882470C>T , CM000669.2:g.147882470C>T	GRCh38
NC_000007.13:g.147579562C>T , CM000669.1:g.147579562C>T	GRCh37
NC_000007.12:g.147210495C>T	NCBI36
NG_007092.2:g.1771110C>T
NG_007092.3:g.1771470C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361727.8:c.2099-21095C>T MANE Select	ENSP00000354778.3:n.2099-21095C>T
ENST00000636870.1:n.1961-21095C>T
ENST00000637825.1:n.1582-21095C>T
ENST00000361727.7:c.2099-21095C>T	ENSP00000354778.3:n.2099-21095C>T
ENST00000455301.2:n.34-21095C>T
ENST00000627772.2:n.272-21095C>T
NM_014141.5:c.2099-21095C>T	NP_054860.1:n.2099-21095C>T
XM_006715919.1:c.587-21095C>T	XP_006715982.1:n.587-21095C>T
NM_014141.6:c.2099-21095C>T MANE Select	NP_054860.1:n.2099-21095C>T