Canonical Allele Identifier: CA168735674

Gene: CNTNAP2

Linked Data

• dbSNP Id: rs1050363998
• gnomAD v2: 7-147188794-A-T
• gnomAD v3: 7-147491702-A-T
• gnomAD v4: 7-147491702-A-T
• MyVariant Identifiers: chr7:g.147188794A>T (hg19) ; chr7:g.147491702A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.147491702A>T , CM000669.2:g.147491702A>T	GRCh38
NC_000007.13:g.147188794A>T , CM000669.1:g.147188794A>T	GRCh37
NC_000007.12:g.146819727A>T	NCBI36
NG_007092.2:g.1380342A>T
NG_007092.3:g.1380702A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361727.8:c.1777+5661A>T MANE Select	ENSP00000354778.3:n.1777+5661A>T
ENST00000636870.1:n.1639+5661A>T
ENST00000637694.1:n.1681-4919A>T
ENST00000637825.1:n.1260+5661A>T
ENST00000638117.1:n.1680+5661A>T
ENST00000361727.7:c.1777+5661A>T	ENSP00000354778.3:n.1777+5661A>T
NM_014141.5:c.1777+5661A>T	NP_054860.1:n.1777+5661A>T
XM_006715919.1:c.265+5661A>T	XP_006715982.1:n.265+5661A>T
XM_017011950.2:c.1777+5661A>T	XP_016867439.1:n.1777+5661A>T
NM_014141.6:c.1777+5661A>T MANE Select	NP_054860.1:n.1777+5661A>T