Canonical Allele Identifier: CA427556386

Gene: ZAP70

Linked Data

• ClinVar Variation Id: 760138
• ClinVar RCV Id: RCV001414028
• dbSNP Id: rs1240162646
• gnomAD v4: 2-97737587-G-A
• MyVariant Identifiers: chr2:g.98354050G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.97737587G>A , CM000664.2:g.97737587G>A	GRCh38
NC_000002.11:g.98354050G>A , CM000664.1:g.98354050G>A	GRCh37
NC_000002.10:g.97720482G>A	NCBI36
NG_007727.1:g.29020G>A , LRG_126:g.29020G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698508.1:c.1404G>A	ENSP00000513759.1:p.Leu468=
ENST00000698509.1:n.1544G>A
ENST00000264972.10:c.1404G>A MANE Select	ENSP00000264972.5:p.Leu468=
ENST00000264972.9:c.1404G>A	ENSP00000264972.5:p.Leu468=
ENST00000451498.2:c.483G>A	ENSP00000400475.2:p.Leu161=
ENST00000463643.5:n.1265G>A
ENST00000487283.5:n.2456G>A
ENST00000495754.1:n.342G>A
NM_001079.3:c.1404G>A , LRG_126t1:c.1404G>A	NP_001070.2:p.Leu468=
NM_207519.1:c.483G>A	NP_997402.1:p.Leu161=
XM_005264015.3:c.1386G>A	XP_005264072.1:p.Leu462=
XM_006712728.2:c.1404G>A	XP_006712791.1:p.Leu468=
XM_011511783.1:c.1404G>A	XP_011510085.1:p.Leu468=
XR_923018.1:n.1606G>A
XR_923019.1:n.1606G>A
XR_923020.1:n.1606G>A
XM_017004867.1:c.1773G>A	XP_016860356.1:p.Leu591=
XM_017004868.1:c.1755G>A	XP_016860357.1:p.Leu585=
XM_017004869.1:c.1773G>A	XP_016860358.1:p.Leu591=
XM_017004870.1:c.1773G>A	XP_016860359.1:p.Leu591=
XR_001738925.1:n.3012G>A
XR_001738926.1:n.3012G>A
XR_001738927.1:n.3012G>A
NM_001079.4:c.1404G>A MANE Select	NP_001070.2:p.Leu468=
NM_001378594.1:c.1404G>A	NP_001365523.1:p.Leu468=
NM_207519.2:c.483G>A	NP_997402.1:p.Leu161=