Canonical Allele Identifier: CA369924780

Gene: CNTNAP2

Linked Data

• MyVariant Identifiers: chr7:g.146829492T>G (hg19) ; chr7:g.147132400T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.147132400T>G , CM000669.2:g.147132400T>G	GRCh38
NC_000007.13:g.146829492T>G , CM000669.1:g.146829492T>G	GRCh37
NC_000007.12:g.146460425T>G	NCBI36
NG_007092.2:g.1021040T>G
NG_007092.3:g.1021400T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361727.8:c.1239T>G MANE Select	ENSP00000354778.3:p.Ser413Arg
ENST00000636561.1:n.1142T>G
ENST00000636870.1:n.1101T>G
ENST00000637150.1:n.1168T>G
ENST00000637694.1:n.1142T>G
ENST00000637825.1:n.722T>G
ENST00000638117.1:n.1142T>G
ENST00000361727.7:c.1239T>G	ENSP00000354778.3:p.Ser413Arg
NM_014141.5:c.1239T>G	NP_054860.1:p.Ser413Arg
XM_017011950.2:c.1239T>G	XP_016867439.1:p.Ser413Arg
NM_014141.6:c.1239T>G MANE Select	NP_054860.1:p.Ser413Arg