Canonical Allele Identifier: CA369924485

Gene: CNTNAP2

Linked Data

• MyVariant Identifiers: chr7:g.146829353C>G (hg19) ; chr7:g.147132261C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.147132261C>G , CM000669.2:g.147132261C>G	GRCh38
NC_000007.13:g.146829353C>G , CM000669.1:g.146829353C>G	GRCh37
NC_000007.12:g.146460286C>G	NCBI36
NG_007092.2:g.1020901C>G
NG_007092.3:g.1021261C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361727.8:c.1100C>G MANE Select	ENSP00000354778.3:p.Ser367Cys
ENST00000636561.1:n.1003C>G
ENST00000636870.1:n.962C>G
ENST00000637150.1:n.1029C>G
ENST00000637694.1:n.1003C>G
ENST00000637825.1:n.583C>G
ENST00000638117.1:n.1003C>G
ENST00000361727.7:c.1100C>G	ENSP00000354778.3:p.Ser367Cys
NM_014141.5:c.1100C>G	NP_054860.1:p.Ser367Cys
XM_017011950.2:c.1100C>G	XP_016867439.1:p.Ser367Cys
NM_014141.6:c.1100C>G MANE Select	NP_054860.1:p.Ser367Cys