Canonical Allele Identifier: CA2123113
Community Standard Title: NM_006736.6(DNAJB2):c.839A>G (p.Gln280Arg)
Gene: DNAJB2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.219284851A>G , CM000664.2:g.219284851A>G GRCh38
NC_000002.11:g.220149573A>G , CM000664.1:g.220149573A>G GRCh37
NC_000002.10:g.219857817A>G NCBI36
NG_029553.1:g.10534A>G

Transcript Alleles

HGVS Amino-acid Change
NM_006736.6:c.839A>G MANE Select NP_006727.2:p.Gln280Arg
ENST00000336576.10:c.839A>G MANE Select ENSP00000338019.5:p.Gln280Arg
NM_001039550.1:c.823+16A>G NP_001034639.1:n.823+16A>G
NM_001039550.2:c.823+16A>G NP_001034639.1:n.823+16A>G
NM_006736.5:c.839A>G NP_006727.2:p.Gln280Arg
ENST00000336576.9:c.839A>G ENSP00000338019.5:p.Gln280Arg
ENST00000392086.8:c.823+16A>G ENSP00000375936.4:n.823+16A>G
ENST00000472019.5:n.566+16A>G
ENST00000473750.5:n.626A>G
ENST00000476254.1:n.463A>G
ENST00000477917.5:n.2443A>G
ENST00000684599.1:n.1046A>G