Canonical Allele Identifier: CA2436589

Gene: BAP1

Linked Data

• ClinVar Variation Id: 383809
• ClinVar RCV Id: RCV000432018 ; RCV000649812 ; RCV000561274
• dbSNP Id: rs757780962
• ExAC: 3:52436391 G / A
• gnomAD v2: 3-52436391-G-A
• gnomAD v4: 3-52402375-G-A
• MyVariant Identifiers: chr3:g.52436391G>A (hg19) ; chr3:g.52402375G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52402375G>A , CM000665.2:g.52402375G>A	GRCh38
NC_000003.11:g.52436391G>A , CM000665.1:g.52436391G>A	GRCh37
NC_000003.10:g.52411431G>A	NCBI36
NG_031859.1:g.12619C>T , LRG_529:g.12619C>T
NG_052911.1:g.91057G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000460680.6:c.2103C>T MANE Select	ENSP00000417132.1:p.Arg701=
ENST00000296288.9:c.2049C>T	ENSP00000296288.5:p.Arg683=
ENST00000460680.5:c.2103C>T	ENSP00000417132.1:p.Arg701=
ENST00000466093.1:n.776C>T
ENST00000469613.5:c.302C>T
ENST00000478368.1:c.675C>T	ENSP00000420647.1:p.Arg225=
NM_004656.3:c.2103C>T	NP_004647.1:p.Arg701=
XM_011534149.1:c.2172C>T	XP_011532451.1:p.Arg724=
XM_011534150.1:c.2127C>T	XP_011532452.1:p.Arg709=
XM_011534151.1:c.2118C>T	XP_011532453.1:p.Arg706=
XM_011534152.1:c.2058C>T	XP_011532454.1:p.Arg686=
XM_011534149.3:c.2172C>T	XP_011532451.1:p.Arg724=
XM_011534150.3:c.2127C>T	XP_011532452.1:p.Arg709=
XM_011534151.3:c.2118C>T	XP_011532453.1:p.Arg706=
XM_011534152.2:c.2058C>T	XP_011532454.1:p.Arg686=
XM_017007303.2:c.2049C>T	XP_016862792.1:p.Arg683=
NM_004656.4:c.2103C>T MANE Select	NP_004647.1:p.Arg701=