Canonical Allele Identifier: CA1400714360

Gene: GATA2

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.128481291_128481297delinsCCTTCTT , CM000665.2:g.128481291_128481297delinsCCTTCTT	GRCh38
NC_000003.11:g.128200134_128200140delinsCCTTCTT , CM000665.1:g.128200134_128200140delinsCCTTCTT	GRCh37
NC_000003.10:g.129682824_129682830delinsCCTTCTT	NCBI36
NG_029334.1:g.16891_16897delinsAAGAAGG , LRG_295:g.16891_16897delinsAAGAAGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000487848.6:c.1165_1171delinsAAGAAGG MANE Plus Clinical	ENSP00000417074.1:p.Lys389=
ENST00000696466.1:c.1447_1453delinsAAGAAGG	ENSP00000512647.1:p.Lys483=
ENST00000696672.1:c.140_146delinsAAGAAGG	ENSP00000512796.1:p.Glu47=
ENST00000341105.7:c.1165_1171delinsAAGAAGG MANE Select	ENSP00000345681.2:p.Lys389=
ENST00000341105.6:c.1165_1171delinsAAGAAGG	ENSP00000345681.2:p.Lys389=
ENST00000430265.6:c.1123_1129delinsAAGAAGG	ENSP00000400259.2:p.Lys375=
ENST00000487848.5:c.1165_1171delinsAAGAAGG	ENSP00000417074.1:p.Lys389=
ENST00000489987.1:n.282_288delinsAAGAAGG
NM_001145661.1:c.1165_1171delinsAAGAAGG , LRG_295t1:c.1165_1171delinsAAGAAGG	NP_001139133.1:p.Lys389=
NM_001145662.1:c.1123_1129delinsAAGAAGG	NP_001139134.1:p.Lys375=
NM_032638.4:c.1165_1171delinsAAGAAGG , LRG_295t2:c.1165_1171delinsAAGAAGG	NP_116027.2:p.Lys389=
NM_001145661.2:c.1165_1171delinsAAGAAGG MANE Plus Clinical	NP_001139133.1:p.Lys389=
NM_032638.5:c.1165_1171delinsAAGAAGG MANE Select	NP_116027.2:p.Lys389=