Canonical Allele Identifier: CA369925811

Gene: CNTNAP2

Linked Data

• dbSNP Id: rs764902194
• gnomAD v2: 7-147183037-A-T
• gnomAD v3: 7-147485945-A-T
• gnomAD v4: 7-147485945-A-T
• MyVariant Identifiers: chr7:g.147183037A>T (hg19) ; chr7:g.147485945A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.147485945A>T , CM000669.2:g.147485945A>T	GRCh38
NC_000007.13:g.147183037A>T , CM000669.1:g.147183037A>T	GRCh37
NC_000007.12:g.146813970A>T	NCBI36
NG_007092.2:g.1374585A>T
NG_007092.3:g.1374945A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000361727.8:c.1681A>T MANE Select	ENSP00000354778.3:p.Asn561Tyr
ENST00000636870.1:n.1543A>T
ENST00000637694.1:n.1584A>T
ENST00000637825.1:n.1164A>T
ENST00000638117.1:n.1584A>T
ENST00000361727.7:c.1681A>T	ENSP00000354778.3:p.Asn561Tyr
NM_014141.5:c.1681A>T	NP_054860.1:p.Asn561Tyr
XM_006715919.1:c.169A>T	XP_006715982.1:p.Asn57Tyr
XM_017011950.2:c.1681A>T	XP_016867439.1:p.Asn561Tyr
NM_014141.6:c.1681A>T MANE Select	NP_054860.1:p.Asn561Tyr