Canonical Allele Identifier: CA919243156

Gene: BRCA2

Linked Data

• dbSNP Id: rs1566253680

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32380128_32380129del , CM000675.2:g.32380128_32380129del	GRCh38
NC_000013.10:g.32954265_32954266del , CM000675.1:g.32954265_32954266del	GRCh37
NC_000013.9:g.31852265_31852266del	NCBI36
NG_012772.3:g.69649_69650del , LRG_293:g.69649_69650del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.9239_9240del	ENSP00000434898.2:p.Ser3080CysfsTer30
ENST00000528762.2:c.*606_*607del	ENSP00000433168.2:n.*606_*607del
ENST00000530893.7:c.8870_8871del	ENSP00000499438.2:p.Ser2957CysfsTer30
ENST00000665585.2:c.*801_*802del	ENSP00000499570.2:n.*801_*802del
ENST00000666593.2:c.9239_9240del	ENSP00000499256.2:p.Ser3080CysfsTer?
ENST00000700202.2:c.9188_9189del	ENSP00000514856.2:p.Ser3063CysfsTer30
ENST00000700202.1:c.1655_1656del	ENSP00000514856.1:p.Ser552CysfsTer30
ENST00000700203.1:n.1366_1367del
ENST00000380152.8:c.9239_9240del MANE Select	ENSP00000369497.3:p.Ser3080CysfsTer30
ENST00000544455.6:c.9239_9240del	ENSP00000439902.1:p.Ser3080CysfsTer30
ENST00000614259.2:c.9247_9248del	ENSP00000506251.1:n.9247_9248del
ENST00000665585.1:c.2117_2118del
ENST00000666593.1:c.122_123del	ENSP00000499256.1:p.Ser41CysfsTer?
ENST00000680887.1:c.9239_9240del	ENSP00000505508.1:p.Ser3080CysfsTer30
ENST00000380152.7:c.9239_9240del	ENSP00000369497.3:p.Ser3080CysfsTer30
ENST00000470094.1:c.196_197del
ENST00000544455.5:c.9239_9240del	ENSP00000439902.1:p.Ser3080CysfsTer30
NM_000059.3:c.9239_9240del , LRG_293t1:c.9239_9240del	NP_000050.2:p.Ser3080CysfsTer30
XM_011535203.1:c.9239_9240del	XP_011533505.1:p.Ser3080CysfsTer30
XM_011535204.1:c.9143_9144del	XP_011533506.1:p.Ser3048CysfsTer30
NM_000059.4:c.9239_9240del MANE Select	NP_000050.3:p.Ser3080CysfsTer30