Canonical Allele Identifier: CA282473

Gene: BAG3

Linked Data

• ClinVar Variation Id: 44786
• ClinVar RCV Id: RCV000037896 ; RCV000312286 ; RCV000350664 ; RCV000589469 ; RCV001086006
• dbSNP Id: rs74157690
• ExAC: 10:121431865 G / T
• gnomAD v2: 10-121431865-G-T
• gnomAD v3: 10-119672353-G-T
• gnomAD v4: 10-119672353-G-T
• MyVariant Identifiers: chr10:g.121431865G>T (hg19) ; chr10:g.119672353G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.119672353G>T , CM000672.2:g.119672353G>T	GRCh38
NC_000010.10:g.121431865G>T , CM000672.1:g.121431865G>T	GRCh37
NC_000010.9:g.121421855G>T	NCBI36
NG_016125.1:g.25984G>T , LRG_742:g.25984G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000369085.8:c.606G>T MANE Select	ENSP00000358081.4:p.Pro202=
ENST00000369085.7:c.606G>T	ENSP00000358081.3:p.Pro202=
ENST00000450186.1:c.432G>T	ENSP00000410036.1:p.Pro144=
NM_004281.3:c.606G>T , LRG_742t1:c.606G>T	NP_004272.2:p.Pro202=
XM_005270287.1:c.606G>T	XP_005270344.1:p.Pro202=
XM_005270287.2:c.606G>T	XP_005270344.1:p.Pro202=
NM_004281.4:c.606G>T MANE Select	NP_004272.2:p.Pro202=