Canonical Allele Identifier: CA2667540511
Gene: GATA2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.128481827_128481853dup , CM000665.2:g.128481827_128481853dup GRCh38
NC_000003.11:g.128200670_128200696dup , CM000665.1:g.128200670_128200696dup GRCh37
NC_000003.10:g.129683360_129683386dup NCBI36
NG_029334.1:g.16335_16361dup , LRG_295:g.16335_16361dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000487848.6:c.1109_1135dup MANE Plus Clinical ENSP00000417074.1:p.Lys378_Leu379insArgAsnAlaCysGlyLeuTyrTyrL...
ENST00000696466.1:c.1391_1417dup ENSP00000512647.1:p.Lys472_Leu473insArgAsnAlaCysGlyLeuTyrTyrL...
ENST00000696672.1:c.92_118dup ENSP00000512796.1:p.Lys39_Leu40insArgAsnAlaCysGlyLeuTyrTyrLys...
ENST00000341105.7:c.1109_1135dup MANE Select ENSP00000345681.2:p.Lys378_Leu379insArgAsnAlaCysGlyLeuTyrTyrL...
ENST00000341105.6:c.1109_1135dup ENSP00000345681.2:p.Lys378_Leu379insArgAsnAlaCysGlyLeuTyrTyrL...
ENST00000430265.6:c.1067_1093dup ENSP00000400259.2:p.Lys364_Leu365insArgAsnAlaCysGlyLeuTyrTyrL...
ENST00000487848.5:c.1109_1135dup ENSP00000417074.1:p.Lys378_Leu379insArgAsnAlaCysGlyLeuTyrTyrL...
ENST00000489987.1:n.226_252dup
NM_001145661.1:c.1109_1135dup , LRG_295t1:c.1109_1135dup NP_001139133.1:p.Lys378_Leu379insArgAsnAlaCysGlyLeuTyrTyrLys
NM_001145662.1:c.1067_1093dup NP_001139134.1:p.Lys364_Leu365insArgAsnAlaCysGlyLeuTyrTyrLys
NM_032638.4:c.1109_1135dup , LRG_295t2:c.1109_1135dup NP_116027.2:p.Lys378_Leu379insArgAsnAlaCysGlyLeuTyrTyrLys
NM_001145661.2:c.1109_1135dup MANE Plus Clinical NP_001139133.1:p.Lys378_Leu379insArgAsnAlaCysGlyLeuTyrTyrLys
NM_032638.5:c.1109_1135dup MANE Select NP_116027.2:p.Lys378_Leu379insArgAsnAlaCysGlyLeuTyrTyrLys