Canonical Allele Identifier: CA369924306

Gene: CNTNAP2

Linked Data

• gnomAD v4: 7-147128775-A-G
• MyVariant Identifiers: chr7:g.146825867A>G (hg19) ; chr7:g.147128775A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.147128775A>G , CM000669.2:g.147128775A>G	GRCh38
NC_000007.13:g.146825867A>G , CM000669.1:g.146825867A>G	GRCh37
NC_000007.12:g.146456800A>G	NCBI36
NG_007092.2:g.1017415A>G
NG_007092.3:g.1017775A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361727.8:c.1022A>G MANE Select	ENSP00000354778.3:p.Asn341Ser
ENST00000636561.1:n.925A>G
ENST00000636870.1:n.884A>G
ENST00000637150.1:n.951A>G
ENST00000637694.1:n.925A>G
ENST00000637825.1:n.505A>G
ENST00000638117.1:n.925A>G
ENST00000361727.7:c.1022A>G	ENSP00000354778.3:p.Asn341Ser
NM_014141.5:c.1022A>G	NP_054860.1:p.Asn341Ser
XM_017011950.2:c.1022A>G	XP_016867439.1:p.Asn341Ser
NM_014141.6:c.1022A>G MANE Select	NP_054860.1:p.Asn341Ser