Canonical Allele Identifier: CA247490140

Gene: BRCA2

Linked Data

• dbSNP Id: rs554224544
• gnomAD v3: 13-32376201-G-A
• gnomAD v4: 13-32376201-G-A
• MyVariant Identifiers: chr13:g.32950338G>A (hg19) ; chr13:g.32376201G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32376201G>A , CM000675.2:g.32376201G>A	GRCh38
NC_000013.10:g.32950338G>A , CM000675.1:g.32950338G>A	GRCh37
NC_000013.9:g.31848338G>A	NCBI36
NG_012772.3:g.65722G>A , LRG_293:g.65722G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.8633-469G>A	ENSP00000434898.2:n.8633-469G>A
ENST00000528762.2:c.8697-469G>A	ENSP00000433168.2:n.8697-469G>A
ENST00000530893.7:c.8264-469G>A	ENSP00000499438.2:n.8264-469G>A
ENST00000665585.2:c.*195-469G>A	ENSP00000499570.2:n.*195-469G>A
ENST00000666593.2:c.8633-469G>A	ENSP00000499256.2:n.8633-469G>A
ENST00000700202.2:c.8633-469G>A	ENSP00000514856.2:n.8633-469G>A
ENST00000700202.1:c.1100-469G>A	ENSP00000514856.1:n.1100-469G>A
ENST00000700203.1:n.291G>A
ENST00000380152.8:c.8633-469G>A MANE Select	ENSP00000369497.3:n.8633-469G>A
ENST00000544455.6:c.8633-469G>A	ENSP00000439902.1:n.8633-469G>A
ENST00000614259.2:c.8641-469G>A	ENSP00000506251.1:n.8641-469G>A
ENST00000665585.1:c.1511-469G>A
ENST00000680887.1:c.8633-469G>A	ENSP00000505508.1:n.8633-469G>A
ENST00000380152.7:c.8633-469G>A	ENSP00000369497.3:n.8633-469G>A
ENST00000528762.1:c.195-469G>A	ENSP00000433168.1:n.195-469G>A
ENST00000544455.5:c.8633-469G>A	ENSP00000439902.1:n.8633-469G>A
NM_000059.3:c.8633-469G>A , LRG_293t1:c.8633-469G>A	NP_000050.2:n.8633-469G>A
XM_011535203.1:c.8633-469G>A	XP_011533505.1:n.8633-469G>A
XM_011535204.1:c.8537-469G>A	XP_011533506.1:n.8537-469G>A
XM_011535205.1:c.8633-469G>A	XP_011533507.1:n.8633-469G>A
NM_000059.4:c.8633-469G>A MANE Select	NP_000050.3:n.8633-469G>A