Canonical Allele Identifier: CA1053362139
Gene: GATA2 HGNC NCBI

Linked Data

dbSNP Id: rs1384512360
gnomAD v3: 3-128483241-C-T
gnomAD v4: 3-128483241-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.128483241C>T , CM000665.2:g.128483241C>T GRCh38
NC_000003.11:g.128202084C>T , CM000665.1:g.128202084C>T GRCh37
NC_000003.10:g.129684774C>T NCBI36
NG_029334.1:g.14947G>A , LRG_295:g.14947G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000487848.6:c.1017+619G>A MANE Plus Clinical ENSP00000417074.1:n.1017+619G>A
ENST00000696466.1:c.1299+619G>A ENSP00000512647.1:n.1299+619G>A
ENST00000341105.7:c.1017+619G>A MANE Select ENSP00000345681.2:n.1017+619G>A
ENST00000341105.6:c.1017+619G>A ENSP00000345681.2:n.1017+619G>A
ENST00000430265.6:c.1017+619G>A ENSP00000400259.2:n.1017+619G>A
ENST00000487848.5:c.1017+619G>A ENSP00000417074.1:n.1017+619G>A
NM_001145661.1:c.1017+619G>A , LRG_295t1:c.1017+619G>A NP_001139133.1:n.1017+619G>A
NM_001145662.1:c.1017+619G>A NP_001139134.1:n.1017+619G>A
NM_032638.4:c.1017+619G>A , LRG_295t2:c.1017+619G>A NP_116027.2:n.1017+619G>A
NM_001145661.2:c.1017+619G>A MANE Plus Clinical NP_001139133.1:n.1017+619G>A
NM_032638.5:c.1017+619G>A MANE Select NP_116027.2:n.1017+619G>A
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