Canonical Allele Identifier: CA212514

Gene: DNAJB2

Linked Data

• ClinVar Variation Id: 183042
• ClinVar RCV Id: RCV000161909 ; RCV000192266 ; RCV003447121
• dbSNP Id: rs730882140
• gnomAD v4: 2-219279847-A-G
• MyVariant Identifiers: chr2:g.220144569A>G (hg19) ; chr2:g.219279847A>G (hg38)
• PubMed: PMID:20301462 ; PMID:24627108 ; PMID:25274842

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219279847A>G , CM000664.2:g.219279847A>G	GRCh38
NC_000002.11:g.220144569A>G , CM000664.1:g.220144569A>G	GRCh37
NC_000002.10:g.219852813A>G	NCBI36
NG_029553.1:g.5530A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684599.1:n.221A>G
ENST00000336576.10:c.14A>G MANE Select	ENSP00000338019.5:p.Tyr5Cys
ENST00000336576.9:c.14A>G	ENSP00000338019.5:p.Tyr5Cys
ENST00000392086.8:c.14A>G	ENSP00000375936.4:p.Tyr5Cys
ENST00000392087.6:c.14A>G	ENSP00000375937.2:p.Tyr5Cys
ENST00000421532.5:c.14A>G	ENSP00000395173.1:p.Tyr5Cys
ENST00000425450.5:c.14A>G	ENSP00000414796.1:p.Tyr5Cys
ENST00000439026.1:c.14A>G	ENSP00000387951.1:p.Tyr5Cys
ENST00000442681.5:c.14A>G	ENSP00000392790.1:p.Tyr5Cys
ENST00000477917.5:n.202A>G
ENST00000480537.5:n.202A>G
ENST00000481815.1:n.260A>G
ENST00000482988.1:n.200A>G
NM_001039550.1:c.14A>G	NP_001034639.1:p.Tyr5Cys
NM_006736.5:c.14A>G	NP_006727.2:p.Tyr5Cys
NM_001039550.2:c.14A>G	NP_001034639.1:p.Tyr5Cys
NM_006736.6:c.14A>G MANE Select	NP_006727.2:p.Tyr5Cys