Canonical Allele Identifier: CA2436622

Gene: BAP1

Linked Data

• ClinVar Variation Id: 489630
• ClinVar RCV Id: RCV000580864 ; RCV001046406 ; RCV003409853
• dbSNP Id: rs762288547
• ExAC: 3:52436669 G / A
• gnomAD v2: 3-52436669-G-A
• gnomAD v4: 3-52402653-G-A
• MyVariant Identifiers: chr3:g.52436669G>A (hg19) ; chr3:g.52402653G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52402653G>A , CM000665.2:g.52402653G>A	GRCh38
NC_000003.11:g.52436669G>A , CM000665.1:g.52436669G>A	GRCh37
NC_000003.10:g.52411709G>A	NCBI36
NG_031859.1:g.12341C>T , LRG_529:g.12341C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000460680.6:c.2005C>T MANE Select	ENSP00000417132.1:p.His669Tyr
ENST00000296288.9:c.1951C>T	ENSP00000296288.5:p.His651Tyr
ENST00000460680.5:c.2005C>T	ENSP00000417132.1:p.His669Tyr
ENST00000466093.1:n.678C>T
ENST00000469613.5:c.204C>T
ENST00000478368.1:c.577C>T	ENSP00000420647.1:p.His193Tyr
NM_004656.3:c.2005C>T	NP_004647.1:p.His669Tyr
XM_011534149.1:c.2074C>T	XP_011532451.1:p.His692Tyr
XM_011534150.1:c.2029C>T	XP_011532452.1:p.His677Tyr
XM_011534151.1:c.2020C>T	XP_011532453.1:p.His674Tyr
XM_011534152.1:c.1960C>T	XP_011532454.1:p.His654Tyr
XM_011534149.3:c.2074C>T	XP_011532451.1:p.His692Tyr
XM_011534150.3:c.2029C>T	XP_011532452.1:p.His677Tyr
XM_011534151.3:c.2020C>T	XP_011532453.1:p.His674Tyr
XM_011534152.2:c.1960C>T	XP_011532454.1:p.His654Tyr
XM_017007303.2:c.1951C>T	XP_016862792.1:p.His651Tyr
NM_004656.4:c.2005C>T MANE Select	NP_004647.1:p.His669Tyr