Canonical Allele Identifier: CA898646112

Gene: GATA2

Linked Data

• dbSNP Id: rs1191565725
• gnomAD v3: 3-128480825-G-C
• gnomAD v4: 3-128480825-G-C
• MyVariant Identifiers: chr3:g.128199668G>C (hg19) ; chr3:g.128480825G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.128480825G>C , CM000665.2:g.128480825G>C	GRCh38
NC_000003.11:g.128199668G>C , CM000665.1:g.128199668G>C	GRCh37
NC_000003.10:g.129682358G>C	NCBI36
NG_029334.1:g.17363C>G , LRG_295:g.17363C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000487848.6:c.*194C>G MANE Plus Clinical	ENSP00000417074.1:n.*194C>G
ENST00000696466.1:c.*194C>G	ENSP00000512647.1:n.*194C>G
ENST00000696672.1:c.612C>G	ENSP00000512796.1:n.612C>G
ENST00000341105.7:c.*194C>G MANE Select	ENSP00000345681.2:n.*194C>G
ENST00000341105.6:c.*194C>G	ENSP00000345681.2:n.*194C>G
ENST00000430265.6:c.*194C>G	ENSP00000400259.2:n.*194C>G
ENST00000489987.1:n.754C>G
NM_001145661.1:c.*194C>G , LRG_295t1:c.*194C>G	NP_001139133.1:n.*194C>G
NM_001145662.1:c.*194C>G	NP_001139134.1:n.*194C>G
NM_032638.4:c.*194C>G , LRG_295t2:c.*194C>G	NP_116027.2:n.*194C>G
NM_001145661.2:c.*194C>G MANE Plus Clinical	NP_001139133.1:n.*194C>G
NM_032638.5:c.*194C>G MANE Select	NP_116027.2:n.*194C>G