Canonical Allele Identifier: CA2573136518

Gene: GATA2

Linked Data

• ClinVar Variation Id: 1611529
• ClinVar RCV Id: RCV002166026
• dbSNP Id: rs948289045

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.128483347C>A , CM000665.2:g.128483347C>A	GRCh38
NC_000003.11:g.128202190C>A , CM000665.1:g.128202190C>A	GRCh37
NC_000003.10:g.129684880C>A	NCBI36
NG_029334.1:g.14841G>T , LRG_295:g.14841G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000487848.6:c.1017+513G>T MANE Plus Clinical	ENSP00000417074.1:n.1017+513G>T
ENST00000696466.1:c.1299+513G>T	ENSP00000512647.1:n.1299+513G>T
ENST00000341105.7:c.1017+513G>T MANE Select	ENSP00000345681.2:n.1017+513G>T
ENST00000341105.6:c.1017+513G>T	ENSP00000345681.2:n.1017+513G>T
ENST00000430265.6:c.1017+513G>T	ENSP00000400259.2:n.1017+513G>T
ENST00000487848.5:c.1017+513G>T	ENSP00000417074.1:n.1017+513G>T
NM_001145661.1:c.1017+513G>T , LRG_295t1:c.1017+513G>T	NP_001139133.1:n.1017+513G>T
NM_001145662.1:c.1017+513G>T	NP_001139134.1:n.1017+513G>T
NM_032638.4:c.1017+513G>T , LRG_295t2:c.1017+513G>T	NP_116027.2:n.1017+513G>T
NM_001145661.2:c.1017+513G>T MANE Plus Clinical	NP_001139133.1:n.1017+513G>T
NM_032638.5:c.1017+513G>T MANE Select	NP_116027.2:n.1017+513G>T