Canonical Allele Identifier: CA185992

Gene: DNAJB2

Linked Data

• ClinVar Variation Id: 183041
• ClinVar RCV Id: RCV000161908 ; RCV000192265 ; RCV003447120
• dbSNP Id: rs730882139
• MyVariant Identifiers: chr2:g.220146494G>A (hg19) ; chr2:g.219281772G>A (hg38)
• PubMed: PMID:20301462 ; PMID:25274842

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219281772G>A , CM000664.2:g.219281772G>A	GRCh38
NC_000002.11:g.220146494G>A , CM000664.1:g.220146494G>A	GRCh37
NC_000002.10:g.219854738G>A	NCBI36
NG_029553.1:g.7455G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683651.1:n.932+1G>A
ENST00000684599.1:n.436+1G>A
ENST00000336576.10:c.229+1G>A MANE Select	ENSP00000338019.5:n.229+1G>A
ENST00000336576.9:c.229+1G>A	ENSP00000338019.5:n.229+1G>A
ENST00000392086.8:c.229+1G>A	ENSP00000375936.4:n.229+1G>A
ENST00000392087.6:c.229+1G>A	ENSP00000375937.2:n.229+1G>A
ENST00000421532.5:c.229+1G>A	ENSP00000395173.1:n.229+1G>A
ENST00000425450.5:c.229+1G>A	ENSP00000414796.1:n.229+1G>A
ENST00000439026.1:c.229+1G>A	ENSP00000387951.1:n.229+1G>A
ENST00000442681.5:c.229+1G>A	ENSP00000392790.1:n.229+1G>A
ENST00000463463.5:n.220+1G>A
ENST00000477917.5:n.1447+1G>A
ENST00000480537.5:n.417+1G>A
ENST00000487855.1:n.129+1G>A
NM_001039550.1:c.229+1G>A	NP_001034639.1:n.229+1G>A
NM_006736.5:c.229+1G>A	NP_006727.2:n.229+1G>A
NM_001039550.2:c.229+1G>A	NP_001034639.1:n.229+1G>A
NM_006736.6:c.229+1G>A MANE Select	NP_006727.2:n.229+1G>A