Canonical Allele Identifier: CA52563971

Gene: ZAP70

Linked Data

• ClinVar Variation Id: 1606755
• ClinVar RCV Id: RCV002139493
• dbSNP Id: rs542619486
• gnomAD v3: 2-97737482-C-A
• gnomAD v4: 2-97737482-C-A
• MyVariant Identifiers: chr2:g.98353945C>A (hg19) ; chr2:g.97737482C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.97737482C>A , CM000664.2:g.97737482C>A	GRCh38
NC_000002.11:g.98353945C>A , CM000664.1:g.98353945C>A	GRCh37
NC_000002.10:g.97720377C>A	NCBI36
NG_007727.1:g.28915C>A , LRG_126:g.28915C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000698508.1:c.1299C>A	ENSP00000513759.1:p.Ile433=
ENST00000698509.1:n.1439C>A
ENST00000264972.10:c.1299C>A MANE Select	ENSP00000264972.5:p.Ile433=
ENST00000264972.9:c.1299C>A	ENSP00000264972.5:p.Ile433=
ENST00000451498.2:c.378C>A	ENSP00000400475.2:p.Ile126=
ENST00000463643.5:n.1160C>A
ENST00000487283.5:n.2351C>A
ENST00000495754.1:n.237C>A
NM_001079.3:c.1299C>A , LRG_126t1:c.1299C>A	NP_001070.2:p.Ile433=
NM_207519.1:c.378C>A	NP_997402.1:p.Ile126=
XM_005264015.3:c.1281C>A	XP_005264072.1:p.Ile427=
XM_006712728.2:c.1299C>A	XP_006712791.1:p.Ile433=
XM_011511783.1:c.1299C>A	XP_011510085.1:p.Ile433=
XR_923018.1:n.1501C>A
XR_923019.1:n.1501C>A
XR_923020.1:n.1501C>A
XM_017004867.1:c.1668C>A	XP_016860356.1:p.Ile556=
XM_017004868.1:c.1650C>A	XP_016860357.1:p.Ile550=
XM_017004869.1:c.1668C>A	XP_016860358.1:p.Ile556=
XM_017004870.1:c.1668C>A	XP_016860359.1:p.Ile556=
XR_001738925.1:n.2907C>A
XR_001738926.1:n.2907C>A
XR_001738927.1:n.2907C>A
NM_001079.4:c.1299C>A MANE Select	NP_001070.2:p.Ile433=
NM_001378594.1:c.1299C>A	NP_001365523.1:p.Ile433=
NM_207519.2:c.378C>A	NP_997402.1:p.Ile126=