Canonical Allele Identifier: CA2622601818

Gene: BRCA2

Linked Data

• gnomAD v4: 13-32379592-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32379592C>A , CM000675.2:g.32379592C>A	GRCh38
NC_000013.10:g.32953729C>A , CM000675.1:g.32953729C>A	GRCh37
NC_000013.9:g.31851729C>A	NCBI36
NG_012772.3:g.69113C>A , LRG_293:g.69113C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.8953+77C>A	ENSP00000434898.2:n.8953+77C>A
ENST00000528762.2:c.*320+77C>A	ENSP00000433168.2:n.*320+77C>A
ENST00000530893.7:c.8584+77C>A	ENSP00000499438.2:n.8584+77C>A
ENST00000665585.2:c.*515+77C>A	ENSP00000499570.2:n.*515+77C>A
ENST00000666593.2:c.8953+77C>A	ENSP00000499256.2:n.8953+77C>A
ENST00000700202.2:c.8953+77C>A	ENSP00000514856.2:n.8953+77C>A
ENST00000700202.1:c.1420+77C>A	ENSP00000514856.1:n.1420+77C>A
ENST00000700203.1:n.1080+77C>A
ENST00000380152.8:c.8953+77C>A MANE Select	ENSP00000369497.3:n.8953+77C>A
ENST00000544455.6:c.8953+77C>A	ENSP00000439902.1:n.8953+77C>A
ENST00000614259.2:c.8961+77C>A	ENSP00000506251.1:n.8961+77C>A
ENST00000665585.1:c.1831+77C>A
ENST00000680887.1:c.8953+77C>A	ENSP00000505508.1:n.8953+77C>A
ENST00000380152.7:c.8953+77C>A	ENSP00000369497.3:n.8953+77C>A
ENST00000544455.5:c.8953+77C>A	ENSP00000439902.1:n.8953+77C>A
NM_000059.3:c.8953+77C>A , LRG_293t1:c.8953+77C>A	NP_000050.2:n.8953+77C>A
XM_011535203.1:c.8953+77C>A	XP_011533505.1:n.8953+77C>A
XM_011535204.1:c.8857+77C>A	XP_011533506.1:n.8857+77C>A
XM_011535205.1:c.8755-158C>A	XP_011533507.1:n.8755-158C>A
NM_000059.4:c.8953+77C>A MANE Select	NP_000050.3:n.8953+77C>A