Canonical Allele Identifier: CA347806386

Gene: ZAP70

Linked Data

• dbSNP Id: rs1678051227
• gnomAD v4: 2-97739415-A-C
• MyVariant Identifiers: chr2:g.98355878A>C (hg19) ; chr2:g.97739415A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.97739415A>C , CM000664.2:g.97739415A>C	GRCh38
NC_000002.11:g.98355878A>C , CM000664.1:g.98355878A>C	GRCh37
NC_000002.10:g.97722310A>C	NCBI36
NG_007727.1:g.30848A>C , LRG_126:g.30848A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698508.1:c.1777A>C	ENSP00000513759.1:p.Met593Leu
ENST00000698509.1:n.1917A>C
ENST00000264972.10:c.1777A>C MANE Select	ENSP00000264972.5:p.Met593Leu
ENST00000264972.9:c.1777A>C	ENSP00000264972.5:p.Met593Leu
ENST00000451498.2:c.856A>C	ENSP00000400475.2:p.Met286Leu
ENST00000463643.5:n.1638A>C
ENST00000487283.5:n.2829A>C
NM_001079.3:c.1777A>C , LRG_126t1:c.1777A>C	NP_001070.2:p.Met593Leu
NM_207519.1:c.856A>C	NP_997402.1:p.Met286Leu
XM_005264015.3:c.1759A>C	XP_005264072.1:p.Met587Leu
XM_011511783.1:c.1736+1308A>C	XP_011510085.1:n.1736+1308A>C
XR_923018.1:n.1938+1308A>C
XR_923019.1:n.1938+1308A>C
XR_923020.1:n.2188A>C
XM_017004867.1:c.2146A>C	XP_016860356.1:p.Met716Leu
XM_017004868.1:c.2128A>C	XP_016860357.1:p.Met710Leu
XM_017004869.1:c.2105+1308A>C	XP_016860358.1:n.2105+1308A>C
XR_001738925.1:n.3344+1308A>C
XR_001738926.1:n.3344+1308A>C
XR_001738927.1:n.3594A>C
NM_001079.4:c.1777A>C MANE Select	NP_001070.2:p.Met593Leu
NM_001378594.1:c.1777A>C	NP_001365523.1:p.Met593Leu
NM_207519.2:c.856A>C	NP_997402.1:p.Met286Leu