Canonical Allele Identifier: CA387767827

Gene: BRCA2

Linked Data

• dbSNP Id: rs2137666093
• MyVariant Identifiers: chr13:g.32972698C>G (hg19) ; chr13:g.32398561C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32398561C>G , CM000675.2:g.32398561C>G	GRCh38
NC_000013.10:g.32972698C>G , CM000675.1:g.32972698C>G	GRCh37
NC_000013.9:g.31870698C>G	NCBI36
NG_012772.3:g.88082C>G , LRG_293:g.88082C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000470094.2:c.*571C>G	ENSP00000434898.2:n.*571C>G
ENST00000528762.2:c.*1415C>G	ENSP00000433168.2:n.*1415C>G
ENST00000530893.7:c.9679C>G	ENSP00000499438.2:p.Gln3227Glu
ENST00000665585.2:c.*1610C>G	ENSP00000499570.2:n.*1610C>G
ENST00000700202.2:c.9997C>G	ENSP00000514856.2:p.Gln3333Glu
ENST00000700202.1:c.2464C>G	ENSP00000514856.1:p.Gln822Glu
ENST00000700203.1:n.2175C>G
ENST00000380152.8:c.10048C>G MANE Select	ENSP00000369497.3:p.Gln3350Glu
ENST00000544455.6:c.10048C>G	ENSP00000439902.1:p.Gln3350Glu
ENST00000614259.2:c.10056C>G	ENSP00000506251.1:n.10056C>G
ENST00000680887.1:c.10048C>G	ENSP00000505508.1:p.Gln3350Glu
ENST00000380152.7:c.10048C>G	ENSP00000369497.3:p.Gln3350Glu
ENST00000544455.5:c.10048C>G	ENSP00000439902.1:p.Gln3350Glu
NM_000059.3:c.10048C>G , LRG_293t1:c.10048C>G	NP_000050.2:p.Gln3350Glu
XM_011535203.1:c.10048C>G	XP_011533505.1:p.Gln3350Glu
XM_011535204.1:c.9952C>G	XP_011533506.1:p.Gln3318Glu
NM_000059.4:c.10048C>G MANE Select	NP_000050.3:p.Gln3350Glu