Canonical Allele Identifier: CA10617154
Gene: GATA2 HGNC NCBI
MyVariant.info:
GRCh38 chr3:g.128480537G>A
GRCh37 chr3:g.128199380G>A
gnomAD v2:
3:128199380 G / A
gnomAD v3:
3:128480537 G / A
gnomAD v4:
chr3-128480537-G-A
Joint Max Group AF 0.19060504 (NFE)
Genomes Max Group AF 0.19207977 (NFE)
Exomes Max Group AF 0.18727478 (NFE)
ClinVar RCV:
RCV000283592
RCV002523240
ClinVar Variation:
343123
dbSNP:
3803
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.128480537G>A , CM000665.2:g.128480537G>A GRCh38
NC_000003.11:g.128199380G>A , CM000665.1:g.128199380G>A GRCh37
NC_000003.10:g.129682070G>A NCBI36
NG_029334.1:g.17651C>T , LRG_295:g.17651C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000487848.6:c.*482C>T MANE Plus Clinical ENSP00000417074.1:n.*482C>T
ENST00000696466.1:c.*482C>T ENSP00000512647.1:n.*482C>T
ENST00000696672.1:c.900C>T ENSP00000512796.1:n.900C>T
ENST00000341105.7:c.*482C>T MANE Select ENSP00000345681.2:n.*482C>T
ENST00000341105.6:c.*482C>T ENSP00000345681.2:n.*482C>T
ENST00000430265.6:c.*482C>T ENSP00000400259.2:n.*482C>T
ENST00000489987.1:n.1042C>T
NM_001145661.1:c.*482C>T , LRG_295t1:c.*482C>T NP_001139133.1:n.*482C>T
NM_001145662.1:c.*482C>T NP_001139134.1:n.*482C>T
NM_032638.4:c.*482C>T , LRG_295t2:c.*482C>T NP_116027.2:n.*482C>T
NM_001145661.2:c.*482C>T MANE Plus Clinical NP_001139133.1:n.*482C>T
NM_032638.5:c.*482C>T MANE Select NP_116027.2:n.*482C>T
Search 100 bp 5'
Search 100 bp 3'