Canonical Allele Identifier: CA247494058

Gene: BRCA2

Linked Data

• dbSNP Id: rs558899655
• gnomAD v3: 13-32330863-A-G
• gnomAD v4: 13-32330863-A-G
• MyVariant Identifiers: chr13:g.32905000A>G (hg19) ; chr13:g.32330863A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32330863A>G , CM000675.2:g.32330863A>G	GRCh38
NC_000013.10:g.32905000A>G , CM000675.1:g.32905000A>G	GRCh37
NC_000013.9:g.31803000A>G	NCBI36
NG_012772.3:g.20384A>G , LRG_293:g.20384A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000470094.2:c.682-56A>G	ENSP00000434898.2:n.682-56A>G
ENST00000528762.2:c.682-56A>G	ENSP00000433168.2:n.682-56A>G
ENST00000530893.7:c.313-56A>G	ENSP00000499438.2:n.313-56A>G
ENST00000665585.2:c.682-56A>G	ENSP00000499570.2:n.682-56A>G
ENST00000666593.2:c.682-56A>G	ENSP00000499256.2:n.682-56A>G
ENST00000700202.2:c.682-56A>G	ENSP00000514856.2:n.682-56A>G
ENST00000700201.1:c.*461-56A>G	ENSP00000514855.1:n.*461-56A>G
ENST00000380152.8:c.682-56A>G MANE Select	ENSP00000369497.3:n.682-56A>G
ENST00000544455.6:c.682-56A>G	ENSP00000439902.1:n.682-56A>G
ENST00000614259.2:c.682-56A>G	ENSP00000506251.1:n.682-56A>G
ENST00000680887.1:c.682-56A>G	ENSP00000505508.1:n.682-56A>G
ENST00000380152.7:c.682-56A>G	ENSP00000369497.3:n.682-56A>G
ENST00000530893.6:n.880-56A>G
ENST00000544455.5:c.682-56A>G	ENSP00000439902.1:n.682-56A>G
ENST00000614259.1:n.682-56A>G
NM_000059.3:c.682-56A>G , LRG_293t1:c.682-56A>G	NP_000050.2:n.682-56A>G
XM_011535203.1:c.682-56A>G	XP_011533505.1:n.682-56A>G
XM_011535204.1:c.682-56A>G	XP_011533506.1:n.682-56A>G
XM_011535205.1:c.682-56A>G	XP_011533507.1:n.682-56A>G
NM_000059.4:c.682-56A>G MANE Select	NP_000050.3:n.682-56A>G