Canonical Allele Identifier: CA026134

Gene: BRCA2

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32394823T>C , CM000675.2:g.32394823T>C	GRCh38
NC_000013.10:g.32968960T>C , CM000675.1:g.32968960T>C	GRCh37
NC_000013.9:g.31866960T>C	NCBI36
NG_012772.3:g.84344T>C , LRG_293:g.84344T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000059.4:c.9391T>C MANE Select	NP_000050.3:p.Ser3131Pro
ENST00000380152.8:c.9391T>C MANE Select	ENSP00000369497.3:p.Ser3131Pro
NM_000059.3:c.9391T>C , LRG_293t1:c.9391T>C	NP_000050.2:p.Ser3131Pro
ENST00000380152.7:c.9391T>C	ENSP00000369497.3:p.Ser3131Pro
ENST00000470094.1:c.348T>C
ENST00000470094.2:c.9391T>C	ENSP00000434898.2:p.Ser3131Pro
ENST00000528762.2:c.*758T>C	ENSP00000433168.2:n.*758T>C
ENST00000530893.7:c.9022T>C	ENSP00000499438.2:p.Ser3008Pro
ENST00000544455.5:c.9391T>C	ENSP00000439902.1:p.Ser3131Pro
ENST00000544455.6:c.9391T>C	ENSP00000439902.1:p.Ser3131Pro
ENST00000614259.2:c.9399T>C	ENSP00000506251.1:n.9399T>C
ENST00000665585.1:c.2269T>C
ENST00000665585.2:c.*953T>C	ENSP00000499570.2:n.*953T>C
ENST00000666593.1:c.413T>C	ENSP00000499256.1:n.413T>C
ENST00000666593.2:c.*236T>C	ENSP00000499256.2:n.*236T>C
ENST00000680887.1:c.9391T>C	ENSP00000505508.1:p.Ser3131Pro
ENST00000700202.1:c.1807T>C	ENSP00000514856.1:p.Ser603Pro
ENST00000700202.2:c.9340T>C	ENSP00000514856.2:p.Ser3114Pro
ENST00000700203.1:n.1518T>C
XM_011535203.1:c.9391T>C	XP_011533505.1:p.Ser3131Pro
XM_011535204.1:c.9295T>C	XP_011533506.1:p.Ser3099Pro