Canonical Allele Identifier: CA347806372

Gene: ZAP70

Linked Data

• gnomAD v4: 2-97739411-G-C
• MyVariant Identifiers: chr2:g.98355874G>C (hg19) ; chr2:g.97739411G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.97739411G>C , CM000664.2:g.97739411G>C	GRCh38
NC_000002.11:g.98355874G>C , CM000664.1:g.98355874G>C	GRCh37
NC_000002.10:g.97722306G>C	NCBI36
NG_007727.1:g.30844G>C , LRG_126:g.30844G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698508.1:c.1773G>C	ENSP00000513759.1:p.Gln591His
ENST00000698509.1:n.1913G>C
ENST00000264972.10:c.1773G>C MANE Select	ENSP00000264972.5:p.Gln591His
ENST00000264972.9:c.1773G>C	ENSP00000264972.5:p.Gln591His
ENST00000451498.2:c.852G>C	ENSP00000400475.2:p.Gln284His
ENST00000463643.5:n.1634G>C
ENST00000487283.5:n.2825G>C
NM_001079.3:c.1773G>C , LRG_126t1:c.1773G>C	NP_001070.2:p.Gln591His
NM_207519.1:c.852G>C	NP_997402.1:p.Gln284His
XM_005264015.3:c.1755G>C	XP_005264072.1:p.Gln585His
XM_011511783.1:c.1736+1304G>C	XP_011510085.1:n.1736+1304G>C
XR_923018.1:n.1938+1304G>C
XR_923019.1:n.1938+1304G>C
XR_923020.1:n.2184G>C
XM_017004867.1:c.2142G>C	XP_016860356.1:p.Gln714His
XM_017004868.1:c.2124G>C	XP_016860357.1:p.Gln708His
XM_017004869.1:c.2105+1304G>C	XP_016860358.1:n.2105+1304G>C
XR_001738925.1:n.3344+1304G>C
XR_001738926.1:n.3344+1304G>C
XR_001738927.1:n.3590G>C
NM_001079.4:c.1773G>C MANE Select	NP_001070.2:p.Gln591His
NM_001378594.1:c.1773G>C	NP_001365523.1:p.Gln591His
NM_207519.2:c.852G>C	NP_997402.1:p.Gln284His