Canonical Allele Identifier: CA1108448929

Gene: CNTNAP2

Linked Data

• dbSNP Id: rs1798628548
• gnomAD v3: 7-147492584-T-C
• gnomAD v4: 7-147492584-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.147492584T>C , CM000669.2:g.147492584T>C	GRCh38
NC_000007.13:g.147189676T>C , CM000669.1:g.147189676T>C	GRCh37
NC_000007.12:g.146820609T>C	NCBI36
NG_007092.2:g.1381224T>C
NG_007092.3:g.1381584T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361727.8:c.1777+6543T>C MANE Select	ENSP00000354778.3:n.1777+6543T>C
ENST00000636870.1:n.1639+6543T>C
ENST00000637694.1:n.1681-4037T>C
ENST00000637825.1:n.1260+6543T>C
ENST00000638117.1:n.1680+6543T>C
ENST00000361727.7:c.1777+6543T>C	ENSP00000354778.3:n.1777+6543T>C
NM_014141.5:c.1777+6543T>C	NP_054860.1:n.1777+6543T>C
XM_006715919.1:c.265+6543T>C	XP_006715982.1:n.265+6543T>C
XM_017011950.2:c.1777+6543T>C	XP_016867439.1:n.1777+6543T>C
NM_014141.6:c.1777+6543T>C MANE Select	NP_054860.1:n.1777+6543T>C