Canonical Allele Identifier: CA435509963

Gene: GATA2

Linked Data

• ClinVar Variation Id: 1620445
• ClinVar RCV Id: RCV002091543
• dbSNP Id: rs2107670314
• MyVariant Identifiers: chr3:g.128202712C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.128483869C>T , CM000665.2:g.128483869C>T	GRCh38
NC_000003.11:g.128202712C>T , CM000665.1:g.128202712C>T	GRCh37
NC_000003.10:g.129685402C>T	NCBI36
NG_029334.1:g.14319G>A , LRG_295:g.14319G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000487848.6:c.1008G>A MANE Plus Clinical	ENSP00000417074.1:p.Lys336=
ENST00000696466.1:c.1290G>A	ENSP00000512647.1:p.Lys430=
ENST00000341105.7:c.1008G>A MANE Select	ENSP00000345681.2:p.Lys336=
ENST00000341105.6:c.1008G>A	ENSP00000345681.2:p.Lys336=
ENST00000430265.6:c.1008G>A	ENSP00000400259.2:p.Lys336=
ENST00000487848.5:c.1008G>A	ENSP00000417074.1:p.Lys336=
NM_001145661.1:c.1008G>A , LRG_295t1:c.1008G>A	NP_001139133.1:p.Lys336=
NM_001145662.1:c.1008G>A	NP_001139134.1:p.Lys336=
NM_032638.4:c.1008G>A , LRG_295t2:c.1008G>A	NP_116027.2:p.Lys336=
NM_001145661.2:c.1008G>A MANE Plus Clinical	NP_001139133.1:p.Lys336=
NM_032638.5:c.1008G>A MANE Select	NP_116027.2:p.Lys336=