Canonical Allele Identifier: CA2667539960

Gene: GATA2

Linked Data

• gnomAD v4: 3-128480747-CT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.128480751del , CM000665.2:g.128480751del	GRCh38
NC_000003.11:g.128199594del , CM000665.1:g.128199594del	GRCh37
NC_000003.10:g.129682284del	NCBI36
NG_029334.1:g.17440del , LRG_295:g.17440del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000487848.6:c.*271del MANE Plus Clinical	ENSP00000417074.1:n.*271del
ENST00000696466.1:c.*271del	ENSP00000512647.1:n.*271del
ENST00000696672.1:c.689del	ENSP00000512796.1:n.689del
ENST00000341105.7:c.*271del MANE Select	ENSP00000345681.2:n.*271del
ENST00000341105.6:c.*271del	ENSP00000345681.2:n.*271del
ENST00000430265.6:c.*271del	ENSP00000400259.2:n.*271del
ENST00000489987.1:n.831del
NM_001145661.1:c.*271del , LRG_295t1:c.*271del	NP_001139133.1:n.*271del
NM_001145662.1:c.*271del	NP_001139134.1:n.*271del
NM_032638.4:c.*271del , LRG_295t2:c.*271del	NP_116027.2:n.*271del
NM_001145661.2:c.*271del MANE Plus Clinical	NP_001139133.1:n.*271del
NM_032638.5:c.*271del MANE Select	NP_116027.2:n.*271del