Canonical Allele Identifier: CA2436617

Gene: BAP1

Linked Data

• ClinVar Variation Id: 701523
• ClinVar RCV Id: RCV001014190 ; RCV001451960
• dbSNP Id: rs769923250
• ExAC: 3:52436634 G / A
• gnomAD v2: 3-52436634-G-A
• gnomAD v3: 3-52402618-G-A
• gnomAD v4: 3-52402618-G-A
• MyVariant Identifiers: chr3:g.52436634G>A (hg19) ; chr3:g.52402618G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52402618G>A , CM000665.2:g.52402618G>A	GRCh38
NC_000003.11:g.52436634G>A , CM000665.1:g.52436634G>A	GRCh37
NC_000003.10:g.52411674G>A	NCBI36
NG_031859.1:g.12376C>T , LRG_529:g.12376C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000460680.6:c.2040C>T MANE Select	ENSP00000417132.1:p.Ser680=
ENST00000296288.9:c.1986C>T	ENSP00000296288.5:p.Ser662=
ENST00000460680.5:c.2040C>T	ENSP00000417132.1:p.Ser680=
ENST00000466093.1:n.713C>T
ENST00000469613.5:c.239C>T
ENST00000478368.1:c.612C>T	ENSP00000420647.1:p.Ser204=
NM_004656.3:c.2040C>T	NP_004647.1:p.Ser680=
XM_011534149.1:c.2109C>T	XP_011532451.1:p.Ser703=
XM_011534150.1:c.2064C>T	XP_011532452.1:p.Ser688=
XM_011534151.1:c.2055C>T	XP_011532453.1:p.Ser685=
XM_011534152.1:c.1995C>T	XP_011532454.1:p.Ser665=
XM_011534149.3:c.2109C>T	XP_011532451.1:p.Ser703=
XM_011534150.3:c.2064C>T	XP_011532452.1:p.Ser688=
XM_011534151.3:c.2055C>T	XP_011532453.1:p.Ser685=
XM_011534152.2:c.1995C>T	XP_011532454.1:p.Ser665=
XM_017007303.2:c.1986C>T	XP_016862792.1:p.Ser662=
NM_004656.4:c.2040C>T MANE Select	NP_004647.1:p.Ser680=