Canonical Allele Identifier: CA10617157
Gene: GATA2 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 343127
ClinVar RCV Id: RCV000335359
dbSNP Id: rs10934857

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.128480819G>A , CM000665.2:g.128480819G>A GRCh38
NC_000003.11:g.128199662G>A , CM000665.1:g.128199662G>A GRCh37
NC_000003.10:g.129682352G>A NCBI36
NG_029334.1:g.17369C>T , LRG_295:g.17369C>T

Transcript Alleles

HGVS Amino-acid change
NM_001145661.1:c.*200C>T , LRG_295t1:c.*200C>T NP_001139133.1:p.=
NM_001145662.1:c.*200C>T VV NP_001139134.1:p.=
NM_032638.4:c.*200C>T , LRG_295t2:c.*200C>T NP_116027.2:p.=
ENST00000341105.6:c.*200C>T ENSP00000345681.2:p.=
ENST00000430265.6:c.*200C>T ENSP00000400259.2:p.=
ENST00000489987.1:n.760C>T