Canonical Allele Identifier: CA025840

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 141807
• ClinVar RCV Id: RCV000130462 ; RCV000233879 ; RCV000356690 ; RCV000409083 ; RCV000780004 ; RCV001775622 ; RCV004532561
• dbSNP Id: rs373227180
• gnomAD v2: 13-32953524-C-T
• gnomAD v3: 13-32379387-C-T
• gnomAD v4: 13-32379387-C-T
• MyVariant Identifiers: chr13:g.32953524C>T (hg19) ; chr13:g.32379387C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32379387C>T , CM000675.2:g.32379387C>T	GRCh38
NC_000013.10:g.32953524C>T , CM000675.1:g.32953524C>T	GRCh37
NC_000013.9:g.31851524C>T	NCBI36
NG_012772.3:g.68908C>T , LRG_293:g.68908C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.8825C>T	ENSP00000434898.2:p.Ala2942Val
ENST00000528762.2:c.*192C>T	ENSP00000433168.2:n.*192C>T
ENST00000530893.7:c.8456C>T	ENSP00000499438.2:p.Ala2819Val
ENST00000665585.2:c.*387C>T	ENSP00000499570.2:n.*387C>T
ENST00000666593.2:c.8825C>T	ENSP00000499256.2:p.Ala2942Val
ENST00000700202.2:c.8825C>T	ENSP00000514856.2:p.Ala2942Val
ENST00000700202.1:c.1292C>T	ENSP00000514856.1:p.Ala431Val
ENST00000700203.1:n.952C>T
ENST00000380152.8:c.8825C>T MANE Select	ENSP00000369497.3:p.Ala2942Val
ENST00000544455.6:c.8825C>T	ENSP00000439902.1:p.Ala2942Val
ENST00000614259.2:c.8833C>T	ENSP00000506251.1:n.8833C>T
ENST00000665585.1:c.1703C>T
ENST00000680887.1:c.8825C>T	ENSP00000505508.1:p.Ala2942Val
ENST00000380152.7:c.8825C>T	ENSP00000369497.3:p.Ala2942Val
ENST00000528762.1:c.387C>T	ENSP00000433168.1:n.387C>T
ENST00000544455.5:c.8825C>T	ENSP00000439902.1:p.Ala2942Val
NM_000059.3:c.8825C>T , LRG_293t1:c.8825C>T	NP_000050.2:p.Ala2942Val
XM_011535203.1:c.8825C>T	XP_011533505.1:p.Ala2942Val
XM_011535204.1:c.8729C>T	XP_011533506.1:p.Ala2910Val
XM_011535205.1:c.8755-363C>T	XP_011533507.1:n.8755-363C>T
NM_000059.4:c.8825C>T MANE Select	NP_000050.3:p.Ala2942Val