Canonical Allele Identifier: CA2667540058

Gene: GATA2

Linked Data

• gnomAD v4: 3-128480828-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.128480828C>G , CM000665.2:g.128480828C>G	GRCh38
NC_000003.11:g.128199671C>G , CM000665.1:g.128199671C>G	GRCh37
NC_000003.10:g.129682361C>G	NCBI36
NG_029334.1:g.17360G>C , LRG_295:g.17360G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000487848.6:c.*191G>C MANE Plus Clinical	ENSP00000417074.1:n.*191G>C
ENST00000696466.1:c.*191G>C	ENSP00000512647.1:n.*191G>C
ENST00000696672.1:c.609G>C	ENSP00000512796.1:n.609G>C
ENST00000341105.7:c.*191G>C MANE Select	ENSP00000345681.2:n.*191G>C
ENST00000341105.6:c.*191G>C	ENSP00000345681.2:n.*191G>C
ENST00000430265.6:c.*191G>C	ENSP00000400259.2:n.*191G>C
ENST00000489987.1:n.751G>C
NM_001145661.1:c.*191G>C , LRG_295t1:c.*191G>C	NP_001139133.1:n.*191G>C
NM_001145662.1:c.*191G>C	NP_001139134.1:n.*191G>C
NM_032638.4:c.*191G>C , LRG_295t2:c.*191G>C	NP_116027.2:n.*191G>C
NM_001145661.2:c.*191G>C MANE Plus Clinical	NP_001139133.1:n.*191G>C
NM_032638.5:c.*191G>C MANE Select	NP_116027.2:n.*191G>C