Canonical Allele Identifier: CA354406006
Gene: GATA2 HGNC NCBI
MyVariant.info:
GRCh38 chr3:g.128485837G>C
GRCh37 chr3:g.128204680G>C
Revel Score:
ENST00000341105 (MANE Select) 0.623
ENST00000430265 0.623
ENST00000487848 (MANE Plus Clinical) 0.623
ClinVar RCV:
RCV000694952
ClinVar Variation:
573310
dbSNP:
387906630
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.128485837G>C , CM000665.2:g.128485837G>C GRCh38
NC_000003.11:g.128204680G>C , CM000665.1:g.128204680G>C GRCh37
NC_000003.10:g.129687370G>C NCBI36
NG_029334.1:g.12351C>G , LRG_295:g.12351C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000487848.6:c.761C>G MANE Plus Clinical ENSP00000417074.1:p.Pro254Arg
ENST00000696466.1:c.1043C>G ENSP00000512647.1:p.Pro348Arg
ENST00000341105.7:c.761C>G MANE Select ENSP00000345681.2:p.Pro254Arg
ENST00000341105.6:c.761C>G ENSP00000345681.2:p.Pro254Arg
ENST00000430265.6:c.761C>G ENSP00000400259.2:p.Pro254Arg
ENST00000487848.5:c.761C>G ENSP00000417074.1:p.Pro254Arg
NM_001145661.1:c.761C>G , LRG_295t1:c.761C>G NP_001139133.1:p.Pro254Arg
NM_001145662.1:c.761C>G NP_001139134.1:p.Pro254Arg
NM_032638.4:c.761C>G , LRG_295t2:c.761C>G NP_116027.2:p.Pro254Arg
NM_001145661.2:c.761C>G MANE Plus Clinical NP_001139133.1:p.Pro254Arg
NM_032638.5:c.761C>G MANE Select NP_116027.2:p.Pro254Arg
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