Canonical Allele Identifier: CA2499222370

Gene: BRCA2

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32380089_32380090insCT , CM000675.2:g.32380089_32380090insCT	GRCh38
NC_000013.10:g.32954226_32954227insCT , CM000675.1:g.32954226_32954227insCT	GRCh37
NC_000013.9:g.31852226_31852227insCT	NCBI36
NG_012772.3:g.69610_69611insCT , LRG_293:g.69610_69611insCT

Transcript Alleles

HGVS	Amino-acid Change
NM_000059.4:c.9200_9201insCT MANE Select	NP_000050.3:p.Ser3068TyrfsTer8
ENST00000380152.8:c.9200_9201insCT MANE Select	ENSP00000369497.3:p.Ser3068TyrfsTer8
NM_000059.3:c.9200_9201insCT , LRG_293t1:c.9200_9201insCT	NP_000050.2:p.Ser3068TyrfsTer8
ENST00000380152.7:c.9200_9201insCT	ENSP00000369497.3:p.Ser3068TyrfsTer8
ENST00000470094.1:c.157_158insCT
ENST00000470094.2:c.9200_9201insCT	ENSP00000434898.2:p.Ser3068TyrfsTer8
ENST00000528762.2:c.*567_*568insCT	ENSP00000433168.2:n.*567_*568insCT
ENST00000530893.7:c.8831_8832insCT	ENSP00000499438.2:p.Ser2945TyrfsTer8
ENST00000544455.5:c.9200_9201insCT	ENSP00000439902.1:p.Ser3068TyrfsTer8
ENST00000544455.6:c.9200_9201insCT	ENSP00000439902.1:p.Ser3068TyrfsTer8
ENST00000614259.2:c.9208_9209insCT	ENSP00000506251.1:n.9208_9209insCT
ENST00000665585.1:c.2078_2079insCT
ENST00000665585.2:c.*762_*763insCT	ENSP00000499570.2:n.*762_*763insCT
ENST00000666593.1:c.83_84insCT	ENSP00000499256.1:p.Ser29TyrfsTer8
ENST00000666593.2:c.9200_9201insCT	ENSP00000499256.2:p.Ser3068TyrfsTer8
ENST00000680887.1:c.9200_9201insCT	ENSP00000505508.1:p.Ser3068TyrfsTer8
ENST00000700202.1:c.1616_1617insCT	ENSP00000514856.1:p.Ser540TyrfsTer8
ENST00000700202.2:c.9149_9150insCT	ENSP00000514856.2:p.Ser3051TyrfsTer8
ENST00000700203.1:n.1327_1328insCT
XM_011535203.1:c.9200_9201insCT	XP_011533505.1:p.Ser3068TyrfsTer8
XM_011535204.1:c.9104_9105insCT	XP_011533506.1:p.Ser3036TyrfsTer8