Canonical Allele Identifier: CA387758332

Gene: BRCA2

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32380097T>C , CM000675.2:g.32380097T>C	GRCh38
NC_000013.10:g.32954234T>C , CM000675.1:g.32954234T>C	GRCh37
NC_000013.9:g.31852234T>C	NCBI36
NG_012772.3:g.69618T>C , LRG_293:g.69618T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000059.4:c.9208T>C MANE Select	NP_000050.3:p.Ser3070Pro
ENST00000380152.8:c.9208T>C MANE Select	ENSP00000369497.3:p.Ser3070Pro
NM_000059.3:c.9208T>C , LRG_293t1:c.9208T>C	NP_000050.2:p.Ser3070Pro
ENST00000380152.7:c.9208T>C	ENSP00000369497.3:p.Ser3070Pro
ENST00000470094.1:c.165T>C
ENST00000470094.2:c.9208T>C	ENSP00000434898.2:p.Ser3070Pro
ENST00000528762.2:c.*575T>C	ENSP00000433168.2:n.*575T>C
ENST00000530893.7:c.8839T>C	ENSP00000499438.2:p.Ser2947Pro
ENST00000544455.5:c.9208T>C	ENSP00000439902.1:p.Ser3070Pro
ENST00000544455.6:c.9208T>C	ENSP00000439902.1:p.Ser3070Pro
ENST00000614259.2:c.9216T>C	ENSP00000506251.1:n.9216T>C
ENST00000665585.1:c.2086T>C
ENST00000665585.2:c.*770T>C	ENSP00000499570.2:n.*770T>C
ENST00000666593.1:c.91T>C	ENSP00000499256.1:p.Ser31Pro
ENST00000666593.2:c.9208T>C	ENSP00000499256.2:p.Ser3070Pro
ENST00000680887.1:c.9208T>C	ENSP00000505508.1:p.Ser3070Pro
ENST00000700202.1:c.1624T>C	ENSP00000514856.1:p.Ser542Pro
ENST00000700202.2:c.9157T>C	ENSP00000514856.2:p.Ser3053Pro
ENST00000700203.1:n.1335T>C
XM_011535203.1:c.9208T>C	XP_011533505.1:p.Ser3070Pro
XM_011535204.1:c.9112T>C	XP_011533506.1:p.Ser3038Pro