Canonical Allele Identifier: CA369925001

Gene: CNTNAP2

Linked Data

• MyVariant Identifiers: chr7:g.146829593T>C (hg19) ; chr7:g.147132501T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.147132501T>C , CM000669.2:g.147132501T>C	GRCh38
NC_000007.13:g.146829593T>C , CM000669.1:g.146829593T>C	GRCh37
NC_000007.12:g.146460526T>C	NCBI36
NG_007092.2:g.1021141T>C
NG_007092.3:g.1021501T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361727.8:c.1340T>C MANE Select	ENSP00000354778.3:p.Ile447Thr
ENST00000636561.1:n.1243T>C
ENST00000636870.1:n.1202T>C
ENST00000637150.1:n.1269T>C
ENST00000637694.1:n.1243T>C
ENST00000637825.1:n.823T>C
ENST00000638117.1:n.1243T>C
ENST00000361727.7:c.1340T>C	ENSP00000354778.3:p.Ile447Thr
NM_014141.5:c.1340T>C	NP_054860.1:p.Ile447Thr
XM_017011950.2:c.1340T>C	XP_016867439.1:p.Ile447Thr
NM_014141.6:c.1340T>C MANE Select	NP_054860.1:p.Ile447Thr