Canonical Allele Identifier: CA354404558
Gene: GATA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1184145
ClinVar RCV Id: RCV001542103
dbSNP Id: rs2107670416

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.128483933A>G , CM000665.2:g.128483933A>G GRCh38
NC_000003.11:g.128202776A>G , CM000665.1:g.128202776A>G GRCh37
NC_000003.10:g.129685466A>G NCBI36
NG_029334.1:g.14255T>C , LRG_295:g.14255T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000487848.6:c.944T>C MANE Plus Clinical ENSP00000417074.1:p.Leu315Pro
ENST00000696466.1:c.1226T>C ENSP00000512647.1:p.Leu409Pro
ENST00000341105.7:c.944T>C MANE Select ENSP00000345681.2:p.Leu315Pro
ENST00000341105.6:c.944T>C ENSP00000345681.2:p.Leu315Pro
ENST00000430265.6:c.944T>C ENSP00000400259.2:p.Leu315Pro
ENST00000487848.5:c.944T>C ENSP00000417074.1:p.Leu315Pro
NM_001145661.1:c.944T>C , LRG_295t1:c.944T>C NP_001139133.1:p.Leu315Pro
NM_001145662.1:c.944T>C NP_001139134.1:p.Leu315Pro
NM_032638.4:c.944T>C , LRG_295t2:c.944T>C NP_116027.2:p.Leu315Pro
NM_001145661.2:c.944T>C MANE Plus Clinical NP_001139133.1:p.Leu315Pro
NM_032638.5:c.944T>C MANE Select NP_116027.2:p.Leu315Pro