Canonical Allele Identifier: CA168735652

Gene: CNTNAP2

Linked Data

• dbSNP Id: rs778220435
• MyVariant Identifiers: chr7:g.147188665G>C (hg19) ; chr7:g.147491573G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.147491573G>C , CM000669.2:g.147491573G>C	GRCh38
NC_000007.13:g.147188665G>C , CM000669.1:g.147188665G>C	GRCh37
NC_000007.12:g.146819598G>C	NCBI36
NG_007092.2:g.1380213G>C
NG_007092.3:g.1380573G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361727.8:c.1777+5532G>C MANE Select	ENSP00000354778.3:n.1777+5532G>C
ENST00000636870.1:n.1639+5532G>C
ENST00000637694.1:n.1681-5048G>C
ENST00000637825.1:n.1260+5532G>C
ENST00000638117.1:n.1680+5532G>C
ENST00000361727.7:c.1777+5532G>C	ENSP00000354778.3:n.1777+5532G>C
NM_014141.5:c.1777+5532G>C	NP_054860.1:n.1777+5532G>C
XM_006715919.1:c.265+5532G>C	XP_006715982.1:n.265+5532G>C
XM_017011950.2:c.1777+5532G>C	XP_016867439.1:n.1777+5532G>C
NM_014141.6:c.1777+5532G>C MANE Select	NP_054860.1:n.1777+5532G>C