Canonical Allele Identifier: CA1790561

Gene: ZAP70

Linked Data

• ClinVar Variation Id: 1137303
• ClinVar RCV Id: RCV001473247
• dbSNP Id: rs201189274
• ExAC: 2:98355829 G / A
• gnomAD v2: 2-98355829-G-A
• gnomAD v3: 2-97739366-G-A
• gnomAD v4: 2-97739366-G-A
• MyVariant Identifiers: chr2:g.98355829G>A (hg19) ; chr2:g.97739366G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.97739366G>A , CM000664.2:g.97739366G>A	GRCh38
NC_000002.11:g.98355829G>A , CM000664.1:g.98355829G>A	GRCh37
NC_000002.10:g.97722261G>A	NCBI36
NG_007727.1:g.30799G>A , LRG_126:g.30799G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698508.1:c.1737-9G>A	ENSP00000513759.1:n.1737-9G>A
ENST00000698509.1:n.1877-9G>A
ENST00000264972.10:c.1737-9G>A MANE Select	ENSP00000264972.5:n.1737-9G>A
ENST00000264972.9:c.1737-9G>A	ENSP00000264972.5:n.1737-9G>A
ENST00000451498.2:c.816-9G>A	ENSP00000400475.2:n.816-9G>A
ENST00000463643.5:n.1598-9G>A
ENST00000487283.5:n.2789-9G>A
NM_001079.3:c.1737-9G>A , LRG_126t1:c.1737-9G>A	NP_001070.2:n.1737-9G>A
NM_207519.1:c.816-9G>A	NP_997402.1:n.816-9G>A
XM_005264015.3:c.1719-9G>A	XP_005264072.1:n.1719-9G>A
XM_011511783.1:c.1736+1259G>A	XP_011510085.1:n.1736+1259G>A
XR_923018.1:n.1938+1259G>A
XR_923019.1:n.1938+1259G>A
XR_923020.1:n.2148-9G>A
XM_017004867.1:c.2106-9G>A	XP_016860356.1:n.2106-9G>A
XM_017004868.1:c.2088-9G>A	XP_016860357.1:n.2088-9G>A
XM_017004869.1:c.2105+1259G>A	XP_016860358.1:n.2105+1259G>A
XR_001738925.1:n.3344+1259G>A
XR_001738926.1:n.3344+1259G>A
XR_001738927.1:n.3554-9G>A
NM_001079.4:c.1737-9G>A MANE Select	NP_001070.2:n.1737-9G>A
NM_001378594.1:c.1737-9G>A	NP_001365523.1:n.1737-9G>A
NM_207519.2:c.816-9G>A	NP_997402.1:n.816-9G>A