Canonical Allele Identifier: CA369924849

Gene: CNTNAP2

Linked Data

• gnomAD v4: 7-147132432-T-A
• MyVariant Identifiers: chr7:g.146829524T>A (hg19) ; chr7:g.147132432T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.147132432T>A , CM000669.2:g.147132432T>A	GRCh38
NC_000007.13:g.146829524T>A , CM000669.1:g.146829524T>A	GRCh37
NC_000007.12:g.146460457T>A	NCBI36
NG_007092.2:g.1021072T>A
NG_007092.3:g.1021432T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361727.8:c.1271T>A MANE Select	ENSP00000354778.3:p.Ile424Asn
ENST00000636561.1:n.1174T>A
ENST00000636870.1:n.1133T>A
ENST00000637150.1:n.1200T>A
ENST00000637694.1:n.1174T>A
ENST00000637825.1:n.754T>A
ENST00000638117.1:n.1174T>A
ENST00000361727.7:c.1271T>A	ENSP00000354778.3:p.Ile424Asn
NM_014141.5:c.1271T>A	NP_054860.1:p.Ile424Asn
XM_017011950.2:c.1271T>A	XP_016867439.1:p.Ile424Asn
NM_014141.6:c.1271T>A MANE Select	NP_054860.1:p.Ile424Asn