Canonical Allele Identifier: CA256743

Gene: ZAP70

Linked Data

• ClinVar Variation Id: 13253
• ClinVar RCV Id: RCV000014158 ; RCV000726208 ; RCV001851845 ; RCV003390681
• dbSNP Id: rs730880318
• ExAC: 2:98354447 G / A
• gnomAD v2: 2-98354447-G-A
• gnomAD v3: 2-97737984-G-A
• gnomAD v4: 2-97737984-G-A
• MyVariant Identifiers: chr2:g.98354447G>A (hg19) ; chr2:g.97737984G>A (hg38)
• PubMed: PMID:8124727

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.97737984G>A , CM000664.2:g.97737984G>A	GRCh38
NC_000002.11:g.98354447G>A , CM000664.1:g.98354447G>A	GRCh37
NC_000002.10:g.97720879G>A	NCBI36
NG_007727.1:g.29417G>A , LRG_126:g.29417G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000698508.1:c.1624-11G>A	ENSP00000513759.1:n.1624-11G>A
ENST00000698509.1:n.1764-11G>A
ENST00000264972.10:c.1624-11G>A MANE Select	ENSP00000264972.5:n.1624-11G>A
ENST00000264972.9:c.1624-11G>A	ENSP00000264972.5:n.1624-11G>A
ENST00000451498.2:c.703-11G>A	ENSP00000400475.2:n.703-11G>A
ENST00000463643.5:n.1485-11G>A
ENST00000487283.5:n.2676-11G>A
ENST00000489250.1:n.77-11G>A
ENST00000495754.1:n.648G>A
NM_001079.3:c.1624-11G>A , LRG_126t1:c.1624-11G>A	NP_001070.2:n.1624-11G>A
NM_207519.1:c.703-11G>A	NP_997402.1:n.703-11G>A
XM_005264015.3:c.1606-11G>A	XP_005264072.1:n.1606-11G>A
XM_006712728.2:c.1624-11G>A	XP_006712791.1:n.1624-11G>A
XM_011511783.1:c.1624-11G>A	XP_011510085.1:n.1624-11G>A
XR_923018.1:n.1826-11G>A
XR_923019.1:n.1826-11G>A
XR_923020.1:n.1826-11G>A
XM_017004867.1:c.1993-11G>A	XP_016860356.1:n.1993-11G>A
XM_017004868.1:c.1975-11G>A	XP_016860357.1:n.1975-11G>A
XM_017004869.1:c.1993-11G>A	XP_016860358.1:n.1993-11G>A
XM_017004870.1:c.1993-11G>A	XP_016860359.1:n.1993-11G>A
XR_001738925.1:n.3232-11G>A
XR_001738926.1:n.3232-11G>A
XR_001738927.1:n.3232-11G>A
NM_001079.4:c.1624-11G>A MANE Select	NP_001070.2:n.1624-11G>A
NM_001378594.1:c.1624-11G>A	NP_001365523.1:n.1624-11G>A
NM_207519.2:c.703-11G>A	NP_997402.1:n.703-11G>A