Canonical Allele Identifier: CA458577928

Gene: CNTNAP2

Linked Data

• gnomAD v4: 7-147132436-C-T
• MyVariant Identifiers: chr7:g.146829528C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.147132436C>T , CM000669.2:g.147132436C>T	GRCh38
NC_000007.13:g.146829528C>T , CM000669.1:g.146829528C>T	GRCh37
NC_000007.12:g.146460461C>T	NCBI36
NG_007092.2:g.1021076C>T
NG_007092.3:g.1021436C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361727.8:c.1275C>T MANE Select	ENSP00000354778.3:p.Asp425=
ENST00000636561.1:n.1178C>T
ENST00000636870.1:n.1137C>T
ENST00000637150.1:n.1204C>T
ENST00000637694.1:n.1178C>T
ENST00000637825.1:n.758C>T
ENST00000638117.1:n.1178C>T
ENST00000361727.7:c.1275C>T	ENSP00000354778.3:p.Asp425=
NM_014141.5:c.1275C>T	NP_054860.1:p.Asp425=
XM_017011950.2:c.1275C>T	XP_016867439.1:p.Asp425=
NM_014141.6:c.1275C>T MANE Select	NP_054860.1:p.Asp425=