Canonical Allele Identifier: CA1139663125

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 966773
• ClinVar RCV Id: RCV001241528
• dbSNP Id: rs2072464513

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32337128_32337130delinsGA , CM000675.2:g.32337128_32337130delinsGA	GRCh38
NC_000013.10:g.32911265_32911267delinsGA , CM000675.1:g.32911265_32911267delinsGA	GRCh37
NC_000013.9:g.31809265_31809267delinsGA	NCBI36
NG_012772.3:g.26649_26651delinsGA , LRG_293:g.26649_26651delinsGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.2773_2775delinsGA	ENSP00000434898.2:p.Ser925GlufsTer?
ENST00000528762.2:c.2773_2775delinsGA	ENSP00000433168.2:p.Ser925GlufsTer?
ENST00000530893.7:c.2404_2406delinsGA	ENSP00000499438.2:p.Ser802GlufsTer?
ENST00000665585.2:c.2773_2775delinsGA	ENSP00000499570.2:p.Ser925GlufsTer?
ENST00000666593.2:c.2773_2775delinsGA	ENSP00000499256.2:p.Ser925GlufsTer?
ENST00000700202.2:c.2773_2775delinsGA	ENSP00000514856.2:p.Ser925GlufsTer?
ENST00000380152.8:c.2773_2775delinsGA MANE Select	ENSP00000369497.3:p.Ser925GlufsTer?
ENST00000544455.6:c.2773_2775delinsGA	ENSP00000439902.1:p.Ser925GlufsTer?
ENST00000614259.2:c.2773_2775delinsGA	ENSP00000506251.1:p.Ser925GlufsTer?
ENST00000680887.1:c.2773_2775delinsGA	ENSP00000505508.1:p.Ser925GlufsTer?
ENST00000380152.7:c.2773_2775delinsGA	ENSP00000369497.3:p.Ser925GlufsTer?
ENST00000544455.5:c.2773_2775delinsGA	ENSP00000439902.1:p.Ser925GlufsTer?
ENST00000614259.1:n.2773_2775delinsGA
NM_000059.3:c.2773_2775delinsGA , LRG_293t1:c.2773_2775delinsGA	NP_000050.2:p.Ser925GlufsTer?
XM_011535203.1:c.2773_2775delinsGA	XP_011533505.1:p.Ser925GlufsTer?
XM_011535204.1:c.2773_2775delinsGA	XP_011533506.1:p.Ser925GlufsTer?
XM_011535205.1:c.2773_2775delinsGA	XP_011533507.1:p.Ser925GlufsTer?
NM_000059.4:c.2773_2775delinsGA MANE Select	NP_000050.3:p.Ser925GlufsTer?