Canonical Allele Identifier: CA2499222119

Gene: BRCA2

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32337196_32337204delinsTGTTCTCC , CM000675.2:g.32337196_32337204delinsTGTTCTCC	GRCh38
NC_000013.10:g.32911333_32911341delinsTGTTCTCC , CM000675.1:g.32911333_32911341delinsTGTTCTCC	GRCh37
NC_000013.9:g.31809333_31809341delinsTGTTCTCC	NCBI36
NG_012772.3:g.26717_26725delinsTGTTCTCC , LRG_293:g.26717_26725delinsTGTTCTCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.2841_2849delinsTGTTCTCC	ENSP00000434898.2:p.Leu947PhefsTer13
ENST00000528762.2:c.2841_2849delinsTGTTCTCC	ENSP00000433168.2:p.Leu947PhefsTer13
ENST00000530893.7:c.2472_2480delinsTGTTCTCC	ENSP00000499438.2:p.Leu824PhefsTer13
ENST00000665585.2:c.2841_2849delinsTGTTCTCC	ENSP00000499570.2:p.Leu947PhefsTer13
ENST00000666593.2:c.2841_2849delinsTGTTCTCC	ENSP00000499256.2:p.Leu947PhefsTer13
ENST00000700202.2:c.2841_2849delinsTGTTCTCC	ENSP00000514856.2:p.Leu947PhefsTer13
ENST00000380152.8:c.2841_2849delinsTGTTCTCC MANE Select	ENSP00000369497.3:p.Leu947PhefsTer13
ENST00000544455.6:c.2841_2849delinsTGTTCTCC	ENSP00000439902.1:p.Leu947PhefsTer13
ENST00000614259.2:c.2841_2849delinsTGTTCTCC	ENSP00000506251.1:p.Leu947PhefsTer13
ENST00000680887.1:c.2841_2849delinsTGTTCTCC	ENSP00000505508.1:p.Leu947PhefsTer13
ENST00000380152.7:c.2841_2849delinsTGTTCTCC	ENSP00000369497.3:p.Leu947PhefsTer13
ENST00000544455.5:c.2841_2849delinsTGTTCTCC	ENSP00000439902.1:p.Leu947PhefsTer13
ENST00000614259.1:n.2841_2849delinsTGTTCTCC
NM_000059.3:c.2841_2849delinsTGTTCTCC , LRG_293t1:c.2841_2849delinsTGTTCTCC	NP_000050.2:p.Leu947PhefsTer13
XM_011535203.1:c.2841_2849delinsTGTTCTCC	XP_011533505.1:p.Leu947PhefsTer13
XM_011535204.1:c.2841_2849delinsTGTTCTCC	XP_011533506.1:p.Leu947PhefsTer13
XM_011535205.1:c.2841_2849delinsTGTTCTCC	XP_011533507.1:p.Leu947PhefsTer13
NM_000059.4:c.2841_2849delinsTGTTCTCC MANE Select	NP_000050.3:p.Leu947PhefsTer13