Canonical Allele Identifier: CA369924803

Gene: CNTNAP2

Linked Data

• MyVariant Identifiers: chr7:g.146829503A>C (hg19) ; chr7:g.147132411A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.147132411A>C , CM000669.2:g.147132411A>C	GRCh38
NC_000007.13:g.146829503A>C , CM000669.1:g.146829503A>C	GRCh37
NC_000007.12:g.146460436A>C	NCBI36
NG_007092.2:g.1021051A>C
NG_007092.3:g.1021411A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000361727.8:c.1250A>C MANE Select	ENSP00000354778.3:p.Asp417Ala
ENST00000636561.1:n.1153A>C
ENST00000636870.1:n.1112A>C
ENST00000637150.1:n.1179A>C
ENST00000637694.1:n.1153A>C
ENST00000637825.1:n.733A>C
ENST00000638117.1:n.1153A>C
ENST00000361727.7:c.1250A>C	ENSP00000354778.3:p.Asp417Ala
NM_014141.5:c.1250A>C	NP_054860.1:p.Asp417Ala
XM_017011950.2:c.1250A>C	XP_016867439.1:p.Asp417Ala
NM_014141.6:c.1250A>C MANE Select	NP_054860.1:p.Asp417Ala