Canonical Allele Identifier: CA435524373
Gene: GATA2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr3:g.128199934C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.128481091C>A , CM000665.2:g.128481091C>A GRCh38
NC_000003.11:g.128199934C>A , CM000665.1:g.128199934C>A GRCh37
NC_000003.10:g.129682624C>A NCBI36
NG_029334.1:g.17097G>T , LRG_295:g.17097G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000487848.6:c.1371G>T MANE Plus Clinical ENSP00000417074.1:p.Thr457=
ENST00000696466.1:c.1653G>T ENSP00000512647.1:p.Thr551=
ENST00000696672.1:c.346G>T ENSP00000512796.1:p.Ala116Ser
ENST00000341105.7:c.1371G>T MANE Select ENSP00000345681.2:p.Thr457=
ENST00000341105.6:c.1371G>T ENSP00000345681.2:p.Thr457=
ENST00000430265.6:c.1329G>T ENSP00000400259.2:p.Thr443=
ENST00000487848.5:c.1371G>T ENSP00000417074.1:p.Thr457=
ENST00000489987.1:n.488G>T
NM_001145661.1:c.1371G>T , LRG_295t1:c.1371G>T NP_001139133.1:p.Thr457=
NM_001145662.1:c.1329G>T NP_001139134.1:p.Thr443=
NM_032638.4:c.1371G>T , LRG_295t2:c.1371G>T NP_116027.2:p.Thr457=
NM_001145661.2:c.1371G>T MANE Plus Clinical NP_001139133.1:p.Thr457=
NM_032638.5:c.1371G>T MANE Select NP_116027.2:p.Thr457=