Canonical Allele Identifier: CA458496492

Gene: CNTNAP2

Linked Data

• gnomAD v4: 7-147128731-C-T
• MyVariant Identifiers: chr7:g.146825823C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.147128731C>T , CM000669.2:g.147128731C>T	GRCh38
NC_000007.13:g.146825823C>T , CM000669.1:g.146825823C>T	GRCh37
NC_000007.12:g.146456756C>T	NCBI36
NG_007092.2:g.1017371C>T
NG_007092.3:g.1017731C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361727.8:c.978C>T MANE Select	ENSP00000354778.3:p.Ser326=
ENST00000636561.1:n.881C>T
ENST00000636870.1:n.840C>T
ENST00000637150.1:n.907C>T
ENST00000637694.1:n.881C>T
ENST00000637825.1:n.461C>T
ENST00000638117.1:n.881C>T
ENST00000361727.7:c.978C>T	ENSP00000354778.3:p.Ser326=
NM_014141.5:c.978C>T	NP_054860.1:p.Ser326=
XM_017011950.2:c.978C>T	XP_016867439.1:p.Ser326=
NM_014141.6:c.978C>T MANE Select	NP_054860.1:p.Ser326=