Canonical Allele Identifier: CA308218

Gene: BAG3

Linked Data

• ClinVar Variation Id: 201677
• ClinVar RCV Id: RCV000183313 ; RCV000809761 ; RCV002326989
• dbSNP Id: rs140251789
• ExAC: 10:121436232 G / A
• gnomAD v2: 10-121436232-G-A
• gnomAD v3: 10-119676720-G-A
• gnomAD v4: 10-119676720-G-A
• MyVariant Identifiers: chr10:g.121436232G>A (hg19) ; chr10:g.119676720G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.119676720G>A , CM000672.2:g.119676720G>A	GRCh38
NC_000010.10:g.121436232G>A , CM000672.1:g.121436232G>A	GRCh37
NC_000010.9:g.121426222G>A	NCBI36
NG_016125.1:g.30351G>A , LRG_742:g.30351G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369085.8:c.1166G>A MANE Select	ENSP00000358081.4:p.Ser389Asn
ENST00000369085.7:c.1166G>A	ENSP00000358081.3:p.Ser389Asn
NM_004281.3:c.1166G>A , LRG_742t1:c.1166G>A	NP_004272.2:p.Ser389Asn
XM_005270287.1:c.1163G>A	XP_005270344.1:p.Ser388Asn
XM_005270287.2:c.1163G>A	XP_005270344.1:p.Ser388Asn
NM_004281.4:c.1166G>A MANE Select	NP_004272.2:p.Ser389Asn