Canonical Allele Identifier: CA2580065762

Gene: DNAJB2

Linked Data

• ClinVar Variation Id: 2049686
• ClinVar RCV Id: RCV002937218
• gnomAD v4: 2-219280698-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219280698G>T , CM000664.2:g.219280698G>T	GRCh38
NC_000002.11:g.220145420G>T , CM000664.1:g.220145420G>T	GRCh37
NC_000002.10:g.219853664G>T	NCBI36
NG_029553.1:g.6381G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684599.1:n.382+11G>T
ENST00000336576.10:c.175+11G>T MANE Select	ENSP00000338019.5:n.175+11G>T
ENST00000336576.9:c.175+11G>T	ENSP00000338019.5:n.175+11G>T
ENST00000392086.8:c.175+11G>T	ENSP00000375936.4:n.175+11G>T
ENST00000392087.6:c.175+11G>T	ENSP00000375937.2:n.175+11G>T
ENST00000421532.5:c.175+11G>T	ENSP00000395173.1:n.175+11G>T
ENST00000425450.5:c.175+11G>T	ENSP00000414796.1:n.175+11G>T
ENST00000439026.1:c.175+11G>T	ENSP00000387951.1:n.175+11G>T
ENST00000442681.5:c.175+11G>T	ENSP00000392790.1:n.175+11G>T
ENST00000463463.5:n.166+11G>T
ENST00000477917.5:n.374G>T
ENST00000480537.5:n.363+11G>T
ENST00000485220.1:n.275G>T
ENST00000487855.1:n.75+11G>T
NM_001039550.1:c.175+11G>T	NP_001034639.1:n.175+11G>T
NM_006736.5:c.175+11G>T	NP_006727.2:n.175+11G>T
NM_001039550.2:c.175+11G>T	NP_001034639.1:n.175+11G>T
NM_006736.6:c.175+11G>T MANE Select	NP_006727.2:n.175+11G>T