Canonical Allele Identifier: CA168735642

Gene: CNTNAP2

Linked Data

• dbSNP Id: rs990801690
• gnomAD v2: 7-147188603-A-G
• gnomAD v3: 7-147491511-A-G
• gnomAD v4: 7-147491511-A-G
• MyVariant Identifiers: chr7:g.147188603A>G (hg19) ; chr7:g.147491511A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.147491511A>G , CM000669.2:g.147491511A>G	GRCh38
NC_000007.13:g.147188603A>G , CM000669.1:g.147188603A>G	GRCh37
NC_000007.12:g.146819536A>G	NCBI36
NG_007092.2:g.1380151A>G
NG_007092.3:g.1380511A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000361727.8:c.1777+5470A>G MANE Select	ENSP00000354778.3:n.1777+5470A>G
ENST00000636870.1:n.1639+5470A>G
ENST00000637694.1:n.1681-5110A>G
ENST00000637825.1:n.1260+5470A>G
ENST00000638117.1:n.1680+5470A>G
ENST00000361727.7:c.1777+5470A>G	ENSP00000354778.3:n.1777+5470A>G
NM_014141.5:c.1777+5470A>G	NP_054860.1:n.1777+5470A>G
XM_006715919.1:c.265+5470A>G	XP_006715982.1:n.265+5470A>G
XM_017011950.2:c.1777+5470A>G	XP_016867439.1:n.1777+5470A>G
NM_014141.6:c.1777+5470A>G MANE Select	NP_054860.1:n.1777+5470A>G