Canonical Allele Identifier: CA350651588

Gene: DNAJB2

Linked Data

• ClinVar Variation Id: 1755031
• ClinVar RCV Id: RCV002367193
• gnomAD v4: 2-219284682-C-G
• MyVariant Identifiers: chr2:g.220149404C>G (hg19) ; chr2:g.219284682C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219284682C>G , CM000664.2:g.219284682C>G	GRCh38
NC_000002.11:g.220149404C>G , CM000664.1:g.220149404C>G	GRCh37
NC_000002.10:g.219857648C>G	NCBI36
NG_029553.1:g.10365C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684599.1:n.877C>G
ENST00000336576.10:c.670C>G MANE Select	ENSP00000338019.5:p.Gln224Glu
ENST00000336576.9:c.670C>G	ENSP00000338019.5:p.Gln224Glu
ENST00000392086.8:c.670C>G	ENSP00000375936.4:p.Gln224Glu
ENST00000392087.6:c.577C>G	ENSP00000375937.2:p.Gln193Glu
ENST00000425450.5:c.670C>G	ENSP00000414796.1:p.Gln224Glu
ENST00000463463.5:n.661C>G
ENST00000472019.5:n.413C>G
ENST00000473750.5:n.457C>G
ENST00000476254.1:n.294C>G
ENST00000477917.5:n.2274C>G
NM_001039550.1:c.670C>G	NP_001034639.1:p.Gln224Glu
NM_006736.5:c.670C>G	NP_006727.2:p.Gln224Glu
NM_001039550.2:c.670C>G	NP_001034639.1:p.Gln224Glu
NM_006736.6:c.670C>G MANE Select	NP_006727.2:p.Gln224Glu