Canonical Allele Identifier: CA350648019

Gene: DNAJB2

Linked Data

• dbSNP Id: rs768700590
• gnomAD v4: 2-219281987-C-T
• MyVariant Identifiers: chr2:g.220146709C>T (hg19) ; chr2:g.219281987C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219281987C>T , CM000664.2:g.219281987C>T	GRCh38
NC_000002.11:g.220146709C>T , CM000664.1:g.220146709C>T	GRCh37
NC_000002.10:g.219854953C>T	NCBI36
NG_029553.1:g.7670C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683651.1:n.981C>T
ENST00000684599.1:n.485C>T
ENST00000336576.10:c.278C>T MANE Select	ENSP00000338019.5:p.Thr93Ile
ENST00000336576.9:c.278C>T	ENSP00000338019.5:p.Thr93Ile
ENST00000392086.8:c.278C>T	ENSP00000375936.4:p.Thr93Ile
ENST00000392087.6:c.278C>T	ENSP00000375937.2:p.Thr93Ile
ENST00000421532.5:c.278C>T	ENSP00000395173.1:p.Thr93Ile
ENST00000425450.5:c.278C>T	ENSP00000414796.1:p.Thr93Ile
ENST00000439026.1:c.278C>T	ENSP00000387951.1:p.Thr93Ile
ENST00000442681.5:c.278C>T	ENSP00000392790.1:p.Thr93Ile
ENST00000463463.5:n.269C>T
ENST00000477917.5:n.1496C>T
ENST00000480537.5:n.466C>T
ENST00000487855.1:n.178C>T
NM_001039550.1:c.278C>T	NP_001034639.1:p.Thr93Ile
NM_006736.5:c.278C>T	NP_006727.2:p.Thr93Ile
NM_001039550.2:c.278C>T	NP_001034639.1:p.Thr93Ile
NM_006736.6:c.278C>T MANE Select	NP_006727.2:p.Thr93Ile