Canonical Allele Identifier: CA431268316

Gene: DNAJB2

Linked Data

• MyVariant Identifiers: chr2:g.220146779C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219282057C>A , CM000664.2:g.219282057C>A	GRCh38
NC_000002.11:g.220146779C>A , CM000664.1:g.220146779C>A	GRCh37
NC_000002.10:g.219855023C>A	NCBI36
NG_029553.1:g.7740C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683651.1:n.1051C>A
ENST00000684599.1:n.555C>A
ENST00000336576.10:c.348C>A MANE Select	ENSP00000338019.5:p.Leu116=
ENST00000336576.9:c.348C>A	ENSP00000338019.5:p.Leu116=
ENST00000392086.8:c.348C>A	ENSP00000375936.4:p.Leu116=
ENST00000392087.6:c.348C>A	ENSP00000375937.2:p.Leu116=
ENST00000421532.5:c.348C>A	ENSP00000395173.1:p.Leu116=
ENST00000425450.5:c.348C>A	ENSP00000414796.1:p.Leu116=
ENST00000439026.1:c.348C>A	ENSP00000387951.1:p.Leu116=
ENST00000442681.5:c.348C>A	ENSP00000392790.1:p.Leu116=
ENST00000463463.5:n.339C>A
ENST00000477917.5:n.1566C>A
ENST00000480537.5:n.536C>A
ENST00000487855.1:n.248C>A
NM_001039550.1:c.348C>A	NP_001034639.1:p.Leu116=
NM_006736.5:c.348C>A	NP_006727.2:p.Leu116=
NM_001039550.2:c.348C>A	NP_001034639.1:p.Leu116=
NM_006736.6:c.348C>A MANE Select	NP_006727.2:p.Leu116=