Canonical Allele Identifier: CA369928694

Gene: CNTNAP2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.148172423C>G , CM000669.2:g.148172423C>G	GRCh38
NC_000007.13:g.147869515C>G , CM000669.1:g.147869515C>G	GRCh37
NC_000007.12:g.147500448C>G	NCBI36
NG_007092.2:g.2061063C>G
NG_007092.3:g.2061423C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_014141.6:c.2955C>G MANE Select	NP_054860.1:p.His985Gln
ENST00000361727.8:c.2955C>G MANE Select	ENSP00000354778.3:p.His985Gln
NM_014141.5:c.2955C>G	NP_054860.1:p.His985Gln
ENST00000361727.7:c.2955C>G	ENSP00000354778.3:p.His985Gln
ENST00000627772.2:n.1128C>G
ENST00000628930.2:c.132C>G	ENSP00000487516.1:p.His44Gln
ENST00000636870.1:n.2817C>G
ENST00000636988.1:n.40C>G
ENST00000637020.1:n.773C>G
XM_006715919.1:c.1443C>G	XP_006715982.1:p.His481Gln