Canonical Allele Identifier: CA2580087436

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 2122396
• ClinVar RCV Id: RCV003046848

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32376771_32376772delinsTT , CM000675.2:g.32376771_32376772delinsTT	GRCh38
NC_000013.10:g.32950908_32950909delinsTT , CM000675.1:g.32950908_32950909delinsTT	GRCh37
NC_000013.9:g.31848908_31848909delinsTT	NCBI36
NG_012772.3:g.66292_66293delinsTT , LRG_293:g.66292_66293delinsTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.8734_8735delinsTT	ENSP00000434898.2:p.Ala2912Leu
ENST00000528762.2:c.*101_*102delinsTT	ENSP00000433168.2:n.*101_*102delinsTT
ENST00000530893.7:c.8365_8366delinsTT	ENSP00000499438.2:p.Ala2789Leu
ENST00000665585.2:c.*296_*297delinsTT	ENSP00000499570.2:n.*296_*297delinsTT
ENST00000666593.2:c.8734_8735delinsTT	ENSP00000499256.2:p.Ala2912Leu
ENST00000700202.2:c.8734_8735delinsTT	ENSP00000514856.2:p.Ala2912Leu
ENST00000700202.1:c.1201_1202delinsTT	ENSP00000514856.1:p.Ala401Leu
ENST00000700203.1:n.861_862delinsTT
ENST00000380152.8:c.8734_8735delinsTT MANE Select	ENSP00000369497.3:p.Ala2912Leu
ENST00000544455.6:c.8734_8735delinsTT	ENSP00000439902.1:p.Ala2912Leu
ENST00000614259.2:c.8742_8743delinsTT	ENSP00000506251.1:n.8742_8743delinsTT
ENST00000665585.1:c.1612_1613delinsTT
ENST00000680887.1:c.8734_8735delinsTT	ENSP00000505508.1:p.Ala2912Leu
ENST00000380152.7:c.8734_8735delinsTT	ENSP00000369497.3:p.Ala2912Leu
ENST00000528762.1:c.296_297delinsTT	ENSP00000433168.1:n.296_297delinsTT
ENST00000544455.5:c.8734_8735delinsTT	ENSP00000439902.1:p.Ala2912Leu
NM_000059.3:c.8734_8735delinsTT , LRG_293t1:c.8734_8735delinsTT	NP_000050.2:p.Ala2912Leu
XM_011535203.1:c.8734_8735delinsTT	XP_011533505.1:p.Ala2912Leu
XM_011535204.1:c.8638_8639delinsTT	XP_011533506.1:p.Ala2880Leu
XM_011535205.1:c.8734_8735delinsTT	XP_011533507.1:p.Ala2912Leu
NM_000059.4:c.8734_8735delinsTT MANE Select	NP_000050.3:p.Ala2912Leu