Canonical Allele Identifier: CA369924282

Gene: CNTNAP2

Linked Data

• MyVariant Identifiers: chr7:g.146825857G>C (hg19) ; chr7:g.147128765G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.147128765G>C , CM000669.2:g.147128765G>C	GRCh38
NC_000007.13:g.146825857G>C , CM000669.1:g.146825857G>C	GRCh37
NC_000007.12:g.146456790G>C	NCBI36
NG_007092.2:g.1017405G>C
NG_007092.3:g.1017765G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361727.8:c.1012G>C MANE Select	ENSP00000354778.3:p.Glu338Gln
ENST00000636561.1:n.915G>C
ENST00000636870.1:n.874G>C
ENST00000637150.1:n.941G>C
ENST00000637694.1:n.915G>C
ENST00000637825.1:n.495G>C
ENST00000638117.1:n.915G>C
ENST00000361727.7:c.1012G>C	ENSP00000354778.3:p.Glu338Gln
NM_014141.5:c.1012G>C	NP_054860.1:p.Glu338Gln
XM_017011950.2:c.1012G>C	XP_016867439.1:p.Glu338Gln
NM_014141.6:c.1012G>C MANE Select	NP_054860.1:p.Glu338Gln