Canonical Allele Identifier: CA2600121
Community Standard Title: NM_032638.5(GATA2):c.31A>G (p.Met11Val)
Gene: GATA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.128487001T>C , CM000665.2:g.128487001T>C GRCh38
NC_000003.11:g.128205844T>C , CM000665.1:g.128205844T>C GRCh37
NC_000003.10:g.129688534T>C NCBI36
NG_029334.1:g.11187A>G , LRG_295:g.11187A>G

Transcript Alleles

HGVS Amino-acid Change
NM_032638.5:c.31A>G MANE Select NP_116027.2:p.Met11Val
ENST00000341105.7:c.31A>G MANE Select ENSP00000345681.2:p.Met11Val
NM_001145661.2:c.31A>G MANE Plus Clinical NP_001139133.1:p.Met11Val
ENST00000487848.6:c.31A>G MANE Plus Clinical ENSP00000417074.1:p.Met11Val
NM_001145661.1:c.31A>G , LRG_295t1:c.31A>G NP_001139133.1:p.Met11Val
NM_001145662.1:c.31A>G NP_001139134.1:p.Met11Val
NM_032638.4:c.31A>G , LRG_295t2:c.31A>G NP_116027.2:p.Met11Val
ENST00000341105.6:c.31A>G ENSP00000345681.2:p.Met11Val
ENST00000430265.6:c.31A>G ENSP00000400259.2:p.Met11Val
ENST00000487848.5:c.31A>G ENSP00000417074.1:p.Met11Val
ENST00000492608.1:c.31A>G ENSP00000418132.1:p.Met11Val
ENST00000696466.1:c.313A>G ENSP00000512647.1:p.Met105Val
ENST00000696652.1:c.31A>G ENSP00000512781.1:p.Met11Val
ENST00000696653.1:c.31A>G ENSP00000512782.1:p.Met11Val
ENST00000696654.1:c.31A>G ENSP00000512783.1:p.Met11Val
ENST00000696661.1:c.31A>G ENSP00000512787.1:p.Met11Val