Canonical Allele Identifier: CA135025

Gene: BAG3

Linked Data

• ClinVar Variation Id: 39466
• ClinVar RCV Id: RCV001081302 ; RCV001107316 ; RCV003486548
• dbSNP Id: rs117671123
• ExAC: 10:121432031 C / T
• gnomAD v2: 10-121432031-C-T
• gnomAD v3: 10-119672519-C-T
• gnomAD v4: 10-119672519-C-T
• COSMIC: COSM3675582
• MyVariant Identifiers: chr10:g.121432031C>T (hg19) ; chr10:g.119672519C>T (hg38)
• PubMed: PMID:21361913 ; PMID:23861362

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.119672519C>T , CM000672.2:g.119672519C>T	GRCh38
NC_000010.10:g.121432031C>T , CM000672.1:g.121432031C>T	GRCh37
NC_000010.9:g.121422021C>T	NCBI36
NG_016125.1:g.26150C>T , LRG_742:g.26150C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000369085.8:c.772C>T MANE Select	ENSP00000358081.4:p.Arg258Trp
ENST00000369085.7:c.772C>T	ENSP00000358081.3:p.Arg258Trp
ENST00000450186.1:c.598C>T	ENSP00000410036.1:p.Arg200Trp
NM_004281.3:c.772C>T , LRG_742t1:c.772C>T	NP_004272.2:p.Arg258Trp
XM_005270287.1:c.772C>T	XP_005270344.1:p.Arg258Trp
XM_005270287.2:c.772C>T	XP_005270344.1:p.Arg258Trp
NM_004281.4:c.772C>T MANE Select	NP_004272.2:p.Arg258Trp