Canonical Allele Identifier: CA282461

Gene: BAG3

Linked Data

• ClinVar Variation Id: 44780
• ClinVar RCV Id: RCV003486564
• dbSNP Id: rs35434411
• ExAC: 10:121429394 G / A
• gnomAD v2: 10-121429394-G-A
• gnomAD v3: 10-119669882-G-A
• gnomAD v4: 10-119669882-G-A
• MyVariant Identifiers: chr10:g.121429394G>A (hg19) ; chr10:g.119669882G>A (hg38)
• PubMed: PMID:21459883 ; PMID:23582692 ; PMID:23861362 ; PMID:26512958

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.119669882G>A , CM000672.2:g.119669882G>A	GRCh38
NC_000010.10:g.121429394G>A , CM000672.1:g.121429394G>A	GRCh37
NC_000010.9:g.121419384G>A	NCBI36
NG_016125.1:g.23513G>A , LRG_742:g.23513G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000369085.8:c.212G>A MANE Select	ENSP00000358081.4:p.Arg71Gln
ENST00000369085.7:c.212G>A	ENSP00000358081.3:p.Arg71Gln
ENST00000450186.1:c.38G>A	ENSP00000410036.1:p.Arg13Gln
NM_004281.3:c.212G>A , LRG_742t1:c.212G>A	NP_004272.2:p.Arg71Gln
XM_005270287.1:c.212G>A	XP_005270344.1:p.Arg71Gln
XM_005270287.2:c.212G>A	XP_005270344.1:p.Arg71Gln
NM_004281.4:c.212G>A MANE Select	NP_004272.2:p.Arg71Gln