Canonical Allele Identifier: CA658656406

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 462500
• ClinVar RCV Id: RCV000543510
• dbSNP Id: rs1555288389
• MyVariant Identifiers: chr13:g.32953585_32953649del (hg19) ; chr13:g.32379448_32379512del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32379448_32379512del , CM000675.2:g.32379448_32379512del	GRCh38
NC_000013.10:g.32953585_32953649del , CM000675.1:g.32953585_32953649del	GRCh37
NC_000013.9:g.31851585_31851649del	NCBI36
NG_012772.3:g.68969_69033del , LRG_293:g.68969_69033del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.8886_8950del	ENSP00000434898.2:p.Leu2962PhefsTer?
ENST00000528762.2:c.*253_*317del	ENSP00000433168.2:n.*253_*317del
ENST00000530893.7:c.8517_8581del	ENSP00000499438.2:p.Leu2839PhefsTer?
ENST00000665585.2:c.*448_*512del	ENSP00000499570.2:n.*448_*512del
ENST00000666593.2:c.8886_8950del	ENSP00000499256.2:p.Leu2962PhefsTer?
ENST00000700202.2:c.8886_8950del	ENSP00000514856.2:p.Leu2962PhefsTer17
ENST00000700202.1:c.1353_1417del	ENSP00000514856.1:p.Leu451PhefsTer17
ENST00000700203.1:n.1013_1077del
ENST00000380152.8:c.8886_8950del MANE Select	ENSP00000369497.3:p.Leu2962PhefsTer?
ENST00000544455.6:c.8886_8950del	ENSP00000439902.1:p.Leu2962PhefsTer?
ENST00000614259.2:c.8894_8958del	ENSP00000506251.1:n.8894_8958del
ENST00000665585.1:c.1764_1828del
ENST00000680887.1:c.8886_8950del	ENSP00000505508.1:p.Leu2962PhefsTer?
ENST00000380152.7:c.8886_8950del	ENSP00000369497.3:p.Leu2962PhefsTer?
ENST00000544455.5:c.8886_8950del	ENSP00000439902.1:p.Leu2962PhefsTer?
NM_000059.3:c.8886_8950del , LRG_293t1:c.8886_8950del	NP_000050.2:p.Leu2962PhefsTer?
XM_011535203.1:c.8886_8950del	XP_011533505.1:p.Leu2962PhefsTer?
XM_011535204.1:c.8790_8854del	XP_011533506.1:p.Leu2930PhefsTer?
XM_011535205.1:c.8755-302_8755-238del	XP_011533507.1:n.8755-302_8755-238del
NM_000059.4:c.8886_8950del MANE Select	NP_000050.3:p.Leu2962PhefsTer?