Canonical Allele Identifier: CA2599803
Gene: GATA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 658829
ClinVar RCV Id: RCV000815723
dbSNP Id: rs768399393

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.128481150C>A , CM000665.2:g.128481150C>A GRCh38
NC_000003.11:g.128199993C>A , CM000665.1:g.128199993C>A GRCh37
NC_000003.10:g.129682683C>A NCBI36
NG_029334.1:g.17038G>T , LRG_295:g.17038G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000487848.6:c.1312G>T MANE Plus Clinical ENSP00000417074.1:p.Ala438Ser
ENST00000696466.1:c.1594G>T ENSP00000512647.1:p.Ala532Ser
ENST00000696672.1:c.287G>T ENSP00000512796.1:p.Gly96Val
ENST00000341105.7:c.1312G>T MANE Select ENSP00000345681.2:p.Ala438Ser
ENST00000341105.6:c.1312G>T ENSP00000345681.2:p.Ala438Ser
ENST00000430265.6:c.1270G>T ENSP00000400259.2:p.Ala424Ser
ENST00000487848.5:c.1312G>T ENSP00000417074.1:p.Ala438Ser
ENST00000489987.1:n.429G>T
NM_001145661.1:c.1312G>T , LRG_295t1:c.1312G>T NP_001139133.1:p.Ala438Ser
NM_001145662.1:c.1270G>T NP_001139134.1:p.Ala424Ser
NM_032638.4:c.1312G>T , LRG_295t2:c.1312G>T NP_116027.2:p.Ala438Ser
NM_001145661.2:c.1312G>T MANE Plus Clinical NP_001139133.1:p.Ala438Ser
NM_032638.5:c.1312G>T MANE Select NP_116027.2:p.Ala438Ser