Canonical Allele Identifier: CA024540

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 142797
• ClinVar RCV Id: RCV000132216 ; RCV000203848 ; RCV000353391 ; RCV000479638 ; RCV000410842 ; RCV001284584
• dbSNP Id: rs576279166
• ExAC: 13:32918739 A / C
• gnomAD v2: 13-32918739-A-C
• gnomAD v3: 13-32344602-A-C
• gnomAD v4: 13-32344602-A-C
• MyVariant Identifiers: chr13:g.32918739A>C (hg19) ; chr13:g.32344602A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32344602A>C , CM000675.2:g.32344602A>C	GRCh38
NC_000013.10:g.32918739A>C , CM000675.1:g.32918739A>C	GRCh37
NC_000013.9:g.31816739A>C	NCBI36
NG_012772.3:g.34123A>C , LRG_293:g.34123A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.6886A>C	ENSP00000434898.2:p.Ile2296Leu
ENST00000528762.2:c.6886A>C	ENSP00000433168.2:p.Ile2296Leu
ENST00000530893.7:c.6517A>C	ENSP00000499438.2:p.Ile2173Leu
ENST00000665585.2:c.6886A>C	ENSP00000499570.2:p.Ile2296Leu
ENST00000666593.2:c.6886A>C	ENSP00000499256.2:p.Ile2296Leu
ENST00000700202.2:c.6886A>C	ENSP00000514856.2:p.Ile2296Leu
ENST00000380152.8:c.6886A>C MANE Select	ENSP00000369497.3:p.Ile2296Leu
ENST00000544455.6:c.6886A>C	ENSP00000439902.1:p.Ile2296Leu
ENST00000614259.2:c.6886A>C	ENSP00000506251.1:p.Ile2296Leu
ENST00000680887.1:c.6886A>C	ENSP00000505508.1:p.Ile2296Leu
ENST00000380152.7:c.6886A>C	ENSP00000369497.3:p.Ile2296Leu
ENST00000544455.5:c.6886A>C	ENSP00000439902.1:p.Ile2296Leu
ENST00000614259.1:n.6886A>C
NM_000059.3:c.6886A>C , LRG_293t1:c.6886A>C	NP_000050.2:p.Ile2296Leu
XM_011535203.1:c.6886A>C	XP_011533505.1:p.Ile2296Leu
XM_011535204.1:c.6842-2225A>C	XP_011533506.1:n.6842-2225A>C
XM_011535205.1:c.6886A>C	XP_011533507.1:p.Ile2296Leu
NM_000059.4:c.6886A>C MANE Select	NP_000050.3:p.Ile2296Leu