Canonical Allele Identifier: CA1750992781

Gene: CNTNAP2

Linked Data

• dbSNP Id: rs1799541332

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.147882673C>T , CM000669.2:g.147882673C>T	GRCh38
NC_000007.13:g.147579765C>T , CM000669.1:g.147579765C>T	GRCh37
NC_000007.12:g.147210698C>T	NCBI36
NG_007092.2:g.1771313C>T
NG_007092.3:g.1771673C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361727.8:c.2099-20892C>T MANE Select	ENSP00000354778.3:n.2099-20892C>T
ENST00000636870.1:n.1961-20892C>T
ENST00000637825.1:n.1582-20892C>T
ENST00000361727.7:c.2099-20892C>T	ENSP00000354778.3:n.2099-20892C>T
ENST00000455301.2:n.34-20892C>T
ENST00000627772.2:n.272-20892C>T
NM_014141.5:c.2099-20892C>T	NP_054860.1:n.2099-20892C>T
XM_006715919.1:c.587-20892C>T	XP_006715982.1:n.587-20892C>T
NM_014141.6:c.2099-20892C>T MANE Select	NP_054860.1:n.2099-20892C>T