Canonical Allele Identifier: CA826212470

Gene: RAB23 BAG2

Linked Data

• dbSNP Id: rs1178973523
• gnomAD v3: 6-57189486-C-T
• gnomAD v4: 6-57189486-C-T
• MyVariant Identifiers: chr6:g.57054284C>T (hg19) ; chr6:g.57189486C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.57189486C>T , CM000668.2:g.57189486C>T	GRCh38
NC_000006.11:g.57054284C>T , CM000668.1:g.57054284C>T	GRCh37
NC_000006.10:g.57162243C>T	NCBI36
NG_012170.1:g.37795G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000468148.6:c.*975G>A (RAB23) MANE Select	ENSP00000417610.1:n.*975G>A
ENST00000317483.4:c.*975G>A (RAB23)	ENSP00000320413.3:n.*975G>A
ENST00000370693.5:c.*5296C>T (BAG2) MANE Select	ENSP00000359727.4:n.*5296C>T
ENST00000468148.5:c.*975G>A (RAB23)	ENSP00000417610.1:n.*975G>A
NM_001278666.1:c.*975G>A (RAB23)	NP_001265595.1:n.*975G>A
NM_001278667.1:c.*975G>A (RAB23)	NP_001265596.1:n.*975G>A
NM_001278668.1:c.*975G>A (RAB23)	NP_001265597.1:n.*975G>A
NM_016277.4:c.*975G>A (RAB23)	NP_057361.3:n.*975G>A
NM_183227.2:c.*975G>A (RAB23)	NP_899050.1:n.*975G>A
NR_103822.1:n.1548G>A (RAB23)
NM_004282.4:c.*5296C>T (BAG2) MANE Select	NP_004273.1:n.*5296C>T
NM_016277.5:c.*975G>A (RAB23) MANE Select	NP_057361.3:n.*975G>A
NM_001278666.2:c.*975G>A (RAB23)	NP_001265595.1:n.*975G>A
NM_001278667.2:c.*975G>A (RAB23)	NP_001265596.1:n.*975G>A
NM_001278668.2:c.*975G>A (RAB23)	NP_001265597.1:n.*975G>A
NM_183227.3:c.*975G>A (RAB23)	NP_899050.1:n.*975G>A
NR_103822.2:n.1541G>A (RAB23)