Canonical Allele Identifier: CA369924515

Gene: CNTNAP2

Linked Data

• MyVariant Identifiers: chr7:g.146829368A>C (hg19) ; chr7:g.147132276A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.147132276A>C , CM000669.2:g.147132276A>C	GRCh38
NC_000007.13:g.146829368A>C , CM000669.1:g.146829368A>C	GRCh37
NC_000007.12:g.146460301A>C	NCBI36
NG_007092.2:g.1020916A>C
NG_007092.3:g.1021276A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361727.8:c.1115A>C MANE Select	ENSP00000354778.3:p.Tyr372Ser
ENST00000636561.1:n.1018A>C
ENST00000636870.1:n.977A>C
ENST00000637150.1:n.1044A>C
ENST00000637694.1:n.1018A>C
ENST00000637825.1:n.598A>C
ENST00000638117.1:n.1018A>C
ENST00000361727.7:c.1115A>C	ENSP00000354778.3:p.Tyr372Ser
NM_014141.5:c.1115A>C	NP_054860.1:p.Tyr372Ser
XM_017011950.2:c.1115A>C	XP_016867439.1:p.Tyr372Ser
NM_014141.6:c.1115A>C MANE Select	NP_054860.1:p.Tyr372Ser