Canonical Allele Identifier: CA2437006

Gene: BAP1

Linked Data

• ClinVar Variation Id: 422670
• ClinVar RCV Id: RCV000485691 ; RCV000579423 ; RCV000818792
• dbSNP Id: rs774730309
• ExAC: 3:52440267 A / G
• gnomAD v2: 3-52440267-A-G
• gnomAD v3: 3-52406251-A-G
• gnomAD v4: 3-52406251-A-G
• MyVariant Identifiers: chr3:g.52440267A>G (hg19) ; chr3:g.52406251A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52406251A>G , CM000665.2:g.52406251A>G	GRCh38
NC_000003.11:g.52440267A>G , CM000665.1:g.52440267A>G	GRCh37
NC_000003.10:g.52415307A>G	NCBI36
NG_031859.1:g.8743T>C , LRG_529:g.8743T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000460680.6:c.783+2T>C MANE Select	ENSP00000417132.1:n.783+2T>C
ENST00000296288.9:c.729+2T>C	ENSP00000296288.5:n.729+2T>C
ENST00000460680.5:c.783+2T>C	ENSP00000417132.1:n.783+2T>C
ENST00000471532.5:n.950+2T>C
NM_004656.3:c.783+2T>C	NP_004647.1:n.783+2T>C
XM_011534149.1:c.783+2T>C	XP_011532451.1:n.783+2T>C
XM_011534150.1:c.783+2T>C	XP_011532452.1:n.783+2T>C
XM_011534151.1:c.729+2T>C	XP_011532453.1:n.729+2T>C
XM_011534152.1:c.783+2T>C	XP_011532454.1:n.783+2T>C
XM_011534149.3:c.783+2T>C	XP_011532451.1:n.783+2T>C
XM_011534150.3:c.783+2T>C	XP_011532452.1:n.783+2T>C
XM_011534151.3:c.729+2T>C	XP_011532453.1:n.729+2T>C
XM_011534152.2:c.783+2T>C	XP_011532454.1:n.783+2T>C
XM_017007303.2:c.729+2T>C	XP_016862792.1:n.729+2T>C
NM_004656.4:c.783+2T>C MANE Select	NP_004647.1:n.783+2T>C