Canonical Allele Identifier: CA369924582

Gene: CNTNAP2

Linked Data

• MyVariant Identifiers: chr7:g.146829400T>A (hg19) ; chr7:g.147132308T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.147132308T>A , CM000669.2:g.147132308T>A	GRCh38
NC_000007.13:g.146829400T>A , CM000669.1:g.146829400T>A	GRCh37
NC_000007.12:g.146460333T>A	NCBI36
NG_007092.2:g.1020948T>A
NG_007092.3:g.1021308T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000361727.8:c.1147T>A MANE Select	ENSP00000354778.3:p.Tyr383Asn
ENST00000636561.1:n.1050T>A
ENST00000636870.1:n.1009T>A
ENST00000637150.1:n.1076T>A
ENST00000637694.1:n.1050T>A
ENST00000637825.1:n.630T>A
ENST00000638117.1:n.1050T>A
ENST00000361727.7:c.1147T>A	ENSP00000354778.3:p.Tyr383Asn
NM_014141.5:c.1147T>A	NP_054860.1:p.Tyr383Asn
XM_017011950.2:c.1147T>A	XP_016867439.1:p.Tyr383Asn
NM_014141.6:c.1147T>A MANE Select	NP_054860.1:p.Tyr383Asn