Canonical Allele Identifier: CA350650345
Community Standard Title: NM_006736.6(DNAJB2):c.499G>A (p.Val167Ile)
Gene: DNAJB2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.219283186G>A , CM000664.2:g.219283186G>A GRCh38
NC_000002.11:g.220147908G>A , CM000664.1:g.220147908G>A GRCh37
NC_000002.10:g.219856152G>A NCBI36
NG_029553.1:g.8869G>A

Transcript Alleles

HGVS Amino-acid Change
NM_006736.6:c.499G>A MANE Select NP_006727.2:p.Val167Ile
ENST00000336576.10:c.499G>A MANE Select ENSP00000338019.5:p.Val167Ile
NM_001039550.1:c.499G>A NP_001034639.1:p.Val167Ile
NM_001039550.2:c.499G>A NP_001034639.1:p.Val167Ile
NM_006736.5:c.499G>A NP_006727.2:p.Val167Ile
ENST00000336576.9:c.499G>A ENSP00000338019.5:p.Val167Ile
ENST00000392086.8:c.499G>A ENSP00000375936.4:p.Val167Ile
ENST00000392087.6:c.406G>A ENSP00000375937.2:p.Val136Ile
ENST00000425450.5:c.499G>A ENSP00000414796.1:p.Val167Ile
ENST00000463463.5:n.490G>A
ENST00000472019.5:n.242G>A
ENST00000473750.5:n.286G>A
ENST00000476254.1:n.123G>A
ENST00000477917.5:n.1920G>A
ENST00000684599.1:n.706G>A