Canonical Allele Identifier: CA250337

Gene: DNAJB2

Linked Data

• ClinVar Variation Id: 209147
• ClinVar RCV Id: RCV000191078
• dbSNP Id: rs797045039
• MyVariant Identifiers: chr2:g.220146774G>T (hg19) ; chr2:g.219282052G>T (hg38)
• PubMed: PMID:24088041 ; PMID:26633545

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219282052G>T , CM000664.2:g.219282052G>T	GRCh38
NC_000002.11:g.220146774G>T , CM000664.1:g.220146774G>T	GRCh37
NC_000002.10:g.219855018G>T	NCBI36
NG_029553.1:g.7735G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683651.1:n.1046G>T
ENST00000684599.1:n.550G>T
ENST00000336576.10:c.343G>T MANE Select	ENSP00000338019.5:p.Glu115Ter
ENST00000336576.9:c.343G>T	ENSP00000338019.5:p.Glu115Ter
ENST00000392086.8:c.343G>T	ENSP00000375936.4:p.Glu115Ter
ENST00000392087.6:c.343G>T	ENSP00000375937.2:p.Glu115Ter
ENST00000421532.5:c.343G>T	ENSP00000395173.1:p.Glu115Ter
ENST00000425450.5:c.343G>T	ENSP00000414796.1:p.Glu115Ter
ENST00000439026.1:c.343G>T	ENSP00000387951.1:p.Glu115Ter
ENST00000442681.5:c.343G>T	ENSP00000392790.1:p.Glu115Ter
ENST00000463463.5:n.334G>T
ENST00000477917.5:n.1561G>T
ENST00000480537.5:n.531G>T
ENST00000487855.1:n.243G>T
NM_001039550.1:c.343G>T	NP_001034639.1:p.Glu115Ter
NM_006736.5:c.343G>T	NP_006727.2:p.Glu115Ter
NM_001039550.2:c.343G>T	NP_001034639.1:p.Glu115Ter
NM_006736.6:c.343G>T MANE Select	NP_006727.2:p.Glu115Ter