Canonical Allele Identifier: CA347803226

Gene: ZAP70

Linked Data

• ClinVar Variation Id: 2013500
• ClinVar RCV Id: RCV002856500
• MyVariant Identifiers: chr2:g.98353941A>T (hg19) ; chr2:g.97737478A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.97737478A>T , CM000664.2:g.97737478A>T	GRCh38
NC_000002.11:g.98353941A>T , CM000664.1:g.98353941A>T	GRCh37
NC_000002.10:g.97720373A>T	NCBI36
NG_007727.1:g.28911A>T , LRG_126:g.28911A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000698508.1:c.1295A>T	ENSP00000513759.1:p.Glu432Val
ENST00000698509.1:n.1435A>T
ENST00000264972.10:c.1295A>T MANE Select	ENSP00000264972.5:p.Glu432Val
ENST00000264972.9:c.1295A>T	ENSP00000264972.5:p.Glu432Val
ENST00000451498.2:c.374A>T	ENSP00000400475.2:p.Glu125Val
ENST00000463643.5:n.1156A>T
ENST00000487283.5:n.2347A>T
ENST00000495754.1:n.233A>T
NM_001079.3:c.1295A>T , LRG_126t1:c.1295A>T	NP_001070.2:p.Glu432Val
NM_207519.1:c.374A>T	NP_997402.1:p.Glu125Val
XM_005264015.3:c.1277A>T	XP_005264072.1:p.Glu426Val
XM_006712728.2:c.1295A>T	XP_006712791.1:p.Glu432Val
XM_011511783.1:c.1295A>T	XP_011510085.1:p.Glu432Val
XR_923018.1:n.1497A>T
XR_923019.1:n.1497A>T
XR_923020.1:n.1497A>T
XM_017004867.1:c.1664A>T	XP_016860356.1:p.Glu555Val
XM_017004868.1:c.1646A>T	XP_016860357.1:p.Glu549Val
XM_017004869.1:c.1664A>T	XP_016860358.1:p.Glu555Val
XM_017004870.1:c.1664A>T	XP_016860359.1:p.Glu555Val
XR_001738925.1:n.2903A>T
XR_001738926.1:n.2903A>T
XR_001738927.1:n.2903A>T
NM_001079.4:c.1295A>T MANE Select	NP_001070.2:p.Glu432Val
NM_001378594.1:c.1295A>T	NP_001365523.1:p.Glu432Val
NM_207519.2:c.374A>T	NP_997402.1:p.Glu125Val