Canonical Allele Identifier: CA354407486

Gene: GATA2

Linked Data

• dbSNP Id: rs1170563192
• gnomAD v2: 3-128205142-C-A
• gnomAD v4: 3-128486299-C-A
• MyVariant Identifiers: chr3:g.128205142C>A (hg19) ; chr3:g.128486299C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.128486299C>A , CM000665.2:g.128486299C>A	GRCh38
NC_000003.11:g.128205142C>A , CM000665.1:g.128205142C>A	GRCh37
NC_000003.10:g.129687832C>A	NCBI36
NG_029334.1:g.11889G>T , LRG_295:g.11889G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000487848.6:c.299G>T MANE Plus Clinical	ENSP00000417074.1:p.Gly100Val
ENST00000696466.1:c.581G>T	ENSP00000512647.1:p.Gly194Val
ENST00000341105.7:c.299G>T MANE Select	ENSP00000345681.2:p.Gly100Val
ENST00000341105.6:c.299G>T	ENSP00000345681.2:p.Gly100Val
ENST00000430265.6:c.299G>T	ENSP00000400259.2:p.Gly100Val
ENST00000487848.5:c.299G>T	ENSP00000417074.1:p.Gly100Val
ENST00000492608.1:c.299G>T	ENSP00000418132.1:p.Gly100Val
NM_001145661.1:c.299G>T , LRG_295t1:c.299G>T	NP_001139133.1:p.Gly100Val
NM_001145662.1:c.299G>T	NP_001139134.1:p.Gly100Val
NM_032638.4:c.299G>T , LRG_295t2:c.299G>T	NP_116027.2:p.Gly100Val
NM_001145661.2:c.299G>T MANE Plus Clinical	NP_001139133.1:p.Gly100Val
NM_032638.5:c.299G>T MANE Select	NP_116027.2:p.Gly100Val