Canonical Allele Identifier: CA350649649
Community Standard Title: NM_006736.6(DNAJB2):c.389G>A (p.Gly130Asp)
Gene: DNAJB2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.219282873G>A , CM000664.2:g.219282873G>A GRCh38
NC_000002.11:g.220147595G>A , CM000664.1:g.220147595G>A GRCh37
NC_000002.10:g.219855839G>A NCBI36
NG_029553.1:g.8556G>A

Transcript Alleles

HGVS Amino-acid Change
NM_006736.6:c.389G>A MANE Select NP_006727.2:p.Gly130Asp
ENST00000336576.10:c.389G>A MANE Select ENSP00000338019.5:p.Gly130Asp
NM_001039550.1:c.389G>A NP_001034639.1:p.Gly130Asp
NM_001039550.2:c.389G>A NP_001034639.1:p.Gly130Asp
NM_006736.5:c.389G>A NP_006727.2:p.Gly130Asp
ENST00000336576.9:c.389G>A ENSP00000338019.5:p.Gly130Asp
ENST00000392086.8:c.389G>A ENSP00000375936.4:p.Gly130Asp
ENST00000392087.6:c.353-260G>A ENSP00000375937.2:n.353-260G>A
ENST00000425450.5:c.389G>A ENSP00000414796.1:p.Gly130Asp
ENST00000439026.1:c.389G>A ENSP00000387951.1:p.Gly130Asp
ENST00000463463.5:n.380G>A
ENST00000472019.5:n.132G>A
ENST00000473750.5:n.176G>A
ENST00000477917.5:n.1607G>A
ENST00000684599.1:n.596G>A