Canonical Allele Identifier: CA285688

Gene: CNTNAP2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.148409385C>G , CM000669.2:g.148409385C>G	GRCh38
NC_000007.13:g.148106477C>G , CM000669.1:g.148106477C>G	GRCh37
NC_000007.12:g.147737410C>G	NCBI36
NG_007092.2:g.2298025C>G
NG_007092.3:g.2298385C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_014141.6:c.3716-6C>G MANE Select	NP_054860.1:n.3716-6C>G
ENST00000361727.8:c.3716-6C>G MANE Select	ENSP00000354778.3:n.3716-6C>G
NM_014141.5:c.3716-6C>G	NP_054860.1:n.3716-6C>G
ENST00000361727.7:c.3716-6C>G	ENSP00000354778.3:n.3716-6C>G
ENST00000463592.3:c.47-6C>G	ENSP00000486292.1:n.47-6C>G
ENST00000627772.2:n.1889-6C>G
ENST00000628930.2:c.893-6C>G	ENSP00000487516.1:n.893-6C>G
ENST00000636242.1:n.517-6C>G
ENST00000636399.1:n.441-6C>G
ENST00000636870.1:n.3578-6C>G
ENST00000637020.1:n.1534-6C>G
XM_006715919.1:c.2204-6C>G	XP_006715982.1:n.2204-6C>G
XR_928094.1:n.342-14693G>C