Canonical Allele Identifier: CA347806230

Gene: ZAP70

Linked Data

• gnomAD v4: 2-97739377-G-T
• MyVariant Identifiers: chr2:g.98355840G>T (hg19) ; chr2:g.97739377G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.97739377G>T , CM000664.2:g.97739377G>T	GRCh38
NC_000002.11:g.98355840G>T , CM000664.1:g.98355840G>T	GRCh37
NC_000002.10:g.97722272G>T	NCBI36
NG_007727.1:g.30810G>T , LRG_126:g.30810G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698508.1:c.1739G>T	ENSP00000513759.1:p.Trp580Leu
ENST00000698509.1:n.1879G>T
ENST00000264972.10:c.1739G>T MANE Select	ENSP00000264972.5:p.Trp580Leu
ENST00000264972.9:c.1739G>T	ENSP00000264972.5:p.Trp580Leu
ENST00000451498.2:c.818G>T	ENSP00000400475.2:p.Trp273Leu
ENST00000463643.5:n.1600G>T
ENST00000487283.5:n.2791G>T
NM_001079.3:c.1739G>T , LRG_126t1:c.1739G>T	NP_001070.2:p.Trp580Leu
NM_207519.1:c.818G>T	NP_997402.1:p.Trp273Leu
XM_005264015.3:c.1721G>T	XP_005264072.1:p.Trp574Leu
XM_011511783.1:c.1736+1270G>T	XP_011510085.1:n.1736+1270G>T
XR_923018.1:n.1938+1270G>T
XR_923019.1:n.1938+1270G>T
XR_923020.1:n.2150G>T
XM_017004867.1:c.2108G>T	XP_016860356.1:p.Trp703Leu
XM_017004868.1:c.2090G>T	XP_016860357.1:p.Trp697Leu
XM_017004869.1:c.2105+1270G>T	XP_016860358.1:n.2105+1270G>T
XR_001738925.1:n.3344+1270G>T
XR_001738926.1:n.3344+1270G>T
XR_001738927.1:n.3556G>T
NM_001079.4:c.1739G>T MANE Select	NP_001070.2:p.Trp580Leu
NM_001378594.1:c.1739G>T	NP_001365523.1:p.Trp580Leu
NM_207519.2:c.818G>T	NP_997402.1:p.Trp273Leu