Canonical Allele Identifier: CA387766687

Gene: BRCA2

Linked Data

• dbSNP Id: rs56121817
• MyVariant Identifiers: chr13:g.32972525C>G (hg19) ; chr13:g.32398388C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32398388C>G , CM000675.2:g.32398388C>G	GRCh38
NC_000013.10:g.32972525C>G , CM000675.1:g.32972525C>G	GRCh37
NC_000013.9:g.31870525C>G	NCBI36
NG_012772.3:g.87909C>G , LRG_293:g.87909C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.*398C>G	ENSP00000434898.2:n.*398C>G
ENST00000528762.2:c.*1242C>G	ENSP00000433168.2:n.*1242C>G
ENST00000530893.7:c.9506C>G	ENSP00000499438.2:p.Pro3169Arg
ENST00000665585.2:c.*1437C>G	ENSP00000499570.2:n.*1437C>G
ENST00000700202.2:c.9824C>G	ENSP00000514856.2:p.Pro3275Arg
ENST00000700202.1:c.2291C>G	ENSP00000514856.1:p.Pro764Arg
ENST00000700203.1:n.2002C>G
ENST00000380152.8:c.9875C>G MANE Select	ENSP00000369497.3:p.Pro3292Arg
ENST00000544455.6:c.9875C>G	ENSP00000439902.1:p.Pro3292Arg
ENST00000614259.2:c.9883C>G	ENSP00000506251.1:n.9883C>G
ENST00000680887.1:c.9875C>G	ENSP00000505508.1:p.Pro3292Arg
ENST00000380152.7:c.9875C>G	ENSP00000369497.3:p.Pro3292Arg
ENST00000533776.1:n.463C>G
ENST00000544455.5:c.9875C>G	ENSP00000439902.1:p.Pro3292Arg
NM_000059.3:c.9875C>G , LRG_293t1:c.9875C>G	NP_000050.2:p.Pro3292Arg
XM_011535203.1:c.9875C>G	XP_011533505.1:p.Pro3292Arg
XM_011535204.1:c.9779C>G	XP_011533506.1:p.Pro3260Arg
NM_000059.4:c.9875C>G MANE Select	NP_000050.3:p.Pro3292Arg