Canonical Allele Identifier: CA2122889

Gene: DNAJB2

Linked Data

• ClinVar Variation Id: 234675
• ClinVar RCV Id: RCV000214459 ; RCV000545700 ; RCV001535597 ; RCV002444871
• dbSNP Id: rs369661561
• ExAC: 2:220146659 A / G
• gnomAD v2: 2-220146659-A-G
• gnomAD v3: 2-219281937-A-G
• gnomAD v4: 2-219281937-A-G
• COSMIC: COSM3727892 ; COSM3727893
• MyVariant Identifiers: chr2:g.220146659A>G (hg19) ; chr2:g.219281937A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219281937A>G , CM000664.2:g.219281937A>G	GRCh38
NC_000002.11:g.220146659A>G , CM000664.1:g.220146659A>G	GRCh37
NC_000002.10:g.219854903A>G	NCBI36
NG_029553.1:g.7620A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683651.1:n.933-2A>G
ENST00000684599.1:n.437-2A>G
ENST00000336576.10:c.230-2A>G MANE Select	ENSP00000338019.5:n.230-2A>G
ENST00000336576.9:c.230-2A>G	ENSP00000338019.5:n.230-2A>G
ENST00000392086.8:c.230-2A>G	ENSP00000375936.4:n.230-2A>G
ENST00000392087.6:c.230-2A>G	ENSP00000375937.2:n.230-2A>G
ENST00000421532.5:c.230-2A>G	ENSP00000395173.1:n.230-2A>G
ENST00000425450.5:c.230-2A>G	ENSP00000414796.1:n.230-2A>G
ENST00000439026.1:c.230-2A>G	ENSP00000387951.1:n.230-2A>G
ENST00000442681.5:c.230-2A>G	ENSP00000392790.1:n.230-2A>G
ENST00000463463.5:n.221-2A>G
ENST00000477917.5:n.1448-2A>G
ENST00000480537.5:n.418-2A>G
ENST00000487855.1:n.130-2A>G
NM_001039550.1:c.230-2A>G	NP_001034639.1:n.230-2A>G
NM_006736.5:c.230-2A>G	NP_006727.2:n.230-2A>G
NM_001039550.2:c.230-2A>G	NP_001034639.1:n.230-2A>G
NM_006736.6:c.230-2A>G MANE Select	NP_006727.2:n.230-2A>G