Canonical Allele Identifier: CA148629

Gene: CNTNAP2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.147108136T>G , CM000669.2:g.147108136T>G	GRCh38
NC_000007.13:g.146805228T>G , CM000669.1:g.146805228T>G	GRCh37
NC_000007.12:g.146436161T>G	NCBI36
NG_007092.2:g.996776T>G
NG_007092.3:g.997136T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_014141.6:c.551-11T>G MANE Select	NP_054860.1:n.551-11T>G
ENST00000361727.8:c.551-11T>G MANE Select	ENSP00000354778.3:n.551-11T>G
NM_014141.5:c.551-11T>G	NP_054860.1:n.551-11T>G
ENST00000361727.7:c.551-11T>G	ENSP00000354778.3:n.551-11T>G
ENST00000636561.1:n.454-11T>G
ENST00000636870.1:n.413-11T>G
ENST00000637150.1:n.480-11T>G
ENST00000637555.1:n.209-11T>G
ENST00000637694.1:n.454-11T>G
ENST00000637825.1:n.34-11T>G
ENST00000638117.1:n.454-11T>G
XM_017011950.2:c.551-11T>G	XP_016867439.1:n.551-11T>G