Canonical Allele Identifier: CA913188562

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 630437
• ClinVar RCV Id: RCV000775820
• dbSNP Id: rs1566218945

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32326244_32326246delinsCTT , CM000675.2:g.32326244_32326246delinsCTT	GRCh38
NC_000013.10:g.32900381_32900383delinsCTT , CM000675.1:g.32900381_32900383delinsCTT	GRCh37
NC_000013.9:g.31798381_31798383delinsCTT	NCBI36
NG_012772.3:g.15765_15767delinsCTT , LRG_293:g.15765_15767delinsCTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.478_480delinsCTT	ENSP00000434898.2:p.Val160Leu
ENST00000528762.2:c.478_480delinsCTT	ENSP00000433168.2:p.Val160Leu
ENST00000530893.7:c.109_111delinsCTT	ENSP00000499438.2:p.Val37Leu
ENST00000665585.2:c.478_480delinsCTT	ENSP00000499570.2:p.Val160Leu
ENST00000666593.2:c.478_480delinsCTT	ENSP00000499256.2:p.Val160Leu
ENST00000700202.2:c.478_480delinsCTT	ENSP00000514856.2:p.Val160Leu
ENST00000700200.1:n.349_351delinsCTT
ENST00000700201.1:c.*257_*259delinsCTT	ENSP00000514855.1:n.*257_*259delinsCTT
ENST00000380152.8:c.478_480delinsCTT MANE Select	ENSP00000369497.3:p.Val160Leu
ENST00000544455.6:c.478_480delinsCTT	ENSP00000439902.1:p.Val160Leu
ENST00000614259.2:c.478_480delinsCTT	ENSP00000506251.1:p.Val160Leu
ENST00000680887.1:c.478_480delinsCTT	ENSP00000505508.1:p.Val160Leu
ENST00000380152.7:c.478_480delinsCTT	ENSP00000369497.3:p.Val160Leu
ENST00000530893.6:n.676_678delinsCTT
ENST00000544455.5:c.478_480delinsCTT	ENSP00000439902.1:p.Val160Leu
ENST00000614259.1:n.478_480delinsCTT
NM_000059.3:c.478_480delinsCTT , LRG_293t1:c.478_480delinsCTT	NP_000050.2:p.Val160Leu
XM_011535203.1:c.478_480delinsCTT	XP_011533505.1:p.Val160Leu
XM_011535204.1:c.478_480delinsCTT	XP_011533506.1:p.Val160Leu
XM_011535205.1:c.478_480delinsCTT	XP_011533507.1:p.Val160Leu
NM_000059.4:c.478_480delinsCTT MANE Select	NP_000050.3:p.Val160Leu