Canonical Allele Identifier: CA3738550
Gene: PBX2 HGNC NCBI
COSMIC:
COSN26730213 (not active)
MyVariant.info:
GRCh38 chr6:g.32187804A>G
GRCh37 chr6:g.32155581A>G
gnomAD v2:
6:32155581 A / G
gnomAD v3:
6:32187804 A / G
gnomAD v4:
chr6-32187804-A-G
Joint Max Group AF 0.40530916 (EAS)
Genomes Max Group AF 0.39019569 (EAS)
Exomes Max Group AF 0.40572335 (EAS)
dbSNP:
204993
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32187804A>G , CM000668.2:g.32187804A>G GRCh38
NC_000006.11:g.32155581A>G , CM000668.1:g.32155581A>G GRCh37
NC_000006.10:g.32263559A>G NCBI36
NG_029868.1:g.1519T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000375050.6:c.735-22T>C MANE Select ENSP00000364190.3:n.735-22T>C
ENST00000375050.5:c.735-22T>C ENSP00000364190.3:n.735-22T>C
ENST00000478678.5:n.762-22T>C
ENST00000496171.1:n.752-22T>C
NM_002586.4:c.735-22T>C NP_002577.2:n.735-22T>C
XM_011514647.1:c.390-22T>C XP_011512949.1:n.390-22T>C
NM_002586.5:c.735-22T>C MANE Select NP_002577.2:n.735-22T>C
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