Canonical Allele Identifier: CA2778328044

Gene: CNTNAP2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.147200296C>T , CM000669.2:g.147200296C>T	GRCh38
NC_000007.13:g.146897388C>T , CM000669.1:g.146897388C>T	GRCh37
NC_000007.12:g.146528321C>T	NCBI36
NG_007092.2:g.1088936C>T
NG_007092.3:g.1089296C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361727.8:c.1348+67787C>T MANE Select	ENSP00000354778.3:n.1348+67787C>T
ENST00000636870.1:n.1210+67787C>T
ENST00000637694.1:n.1251+67787C>T
ENST00000637825.1:n.831+67787C>T
ENST00000638117.1:n.1251+67787C>T
ENST00000361727.7:c.1348+67787C>T	ENSP00000354778.3:n.1348+67787C>T
NM_014141.5:c.1348+67787C>T	NP_054860.1:n.1348+67787C>T
XM_017011950.2:c.1348+67787C>T	XP_016867439.1:n.1348+67787C>T
NM_014141.6:c.1348+67787C>T MANE Select	NP_054860.1:n.1348+67787C>T