Canonical Allele Identifier: CA10579445

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 230129
• ClinVar RCV Id: RCV000222478 ; RCV000814580
• dbSNP Id: rs876658407
• MyVariant Identifiers: chr13:g.32893238_32893252del (hg19) ; chr13:g.32319101_32319115del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32319101_32319115del , CM000675.2:g.32319101_32319115del	GRCh38
NC_000013.10:g.32893238_32893252del , CM000675.1:g.32893238_32893252del	GRCh37
NC_000013.9:g.31791238_31791252del	NCBI36
NG_012772.3:g.8622_8636del , LRG_293:g.8622_8636del
NG_017006.2:g.1251_1265del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.92_106del	ENSP00000434898.2:p.Trp31_Leu35del
ENST00000528762.2:c.92_106del	ENSP00000433168.2:p.Trp31_Leu35del
ENST00000530893.7:c.-278_-264del	ENSP00000499438.2:n.-278_-264del
ENST00000665585.2:c.92_106del	ENSP00000499570.2:p.Trp31_Leu35del
ENST00000666593.2:c.92_106del	ENSP00000499256.2:p.Trp31_Leu35del
ENST00000700202.2:c.92_106del	ENSP00000514856.2:p.Trp31_Leu35del
ENST00000700200.1:n.191+2574_191+2588del
ENST00000700201.1:c.92_106del	ENSP00000514855.1:p.Trp31_Leu35del
ENST00000380152.8:c.92_106del MANE Select	ENSP00000369497.3:p.Trp31_Leu35del
ENST00000544455.6:c.92_106del	ENSP00000439902.1:p.Trp31_Leu35del
ENST00000614259.2:c.92_106del	ENSP00000506251.1:p.Trp31_Leu35del
ENST00000680887.1:c.92_106del	ENSP00000505508.1:p.Trp31_Leu35del
ENST00000380152.7:c.92_106del	ENSP00000369497.3:p.Trp31_Leu35del
ENST00000530893.6:n.290_304del
ENST00000544455.5:c.92_106del	ENSP00000439902.1:p.Trp31_Leu35del
ENST00000614259.1:n.92_106del
NM_000059.3:c.92_106del , LRG_293t1:c.92_106del	NP_000050.2:p.Trp31_Leu35del
XM_011535203.1:c.92_106del	XP_011533505.1:p.Trp31_Leu35del
XM_011535204.1:c.92_106del	XP_011533506.1:p.Trp31_Leu35del
XM_011535205.1:c.92_106del	XP_011533507.1:p.Trp31_Leu35del
NM_000059.4:c.92_106del MANE Select	NP_000050.3:p.Trp31_Leu35del