Canonical Allele Identifier: CA658683857

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 491367
• ClinVar RCV Id: RCV000584591
• dbSNP Id: rs1555288450
• MyVariant Identifiers: chr13:g.32953925_32953958del (hg19) ; chr13:g.32379788_32379821del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32379788_32379821del , CM000675.2:g.32379788_32379821del	GRCh38
NC_000013.10:g.32953925_32953958del , CM000675.1:g.32953925_32953958del	GRCh37
NC_000013.9:g.31851925_31851958del	NCBI36
NG_012772.3:g.69309_69342del , LRG_293:g.69309_69342del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.8992_9025del	ENSP00000434898.2:p.Ser2998IlefsTer19
ENST00000528762.2:c.*359_*392del	ENSP00000433168.2:n.*359_*392del
ENST00000530893.7:c.8623_8656del	ENSP00000499438.2:p.Ser2875IlefsTer19
ENST00000665585.2:c.*554_*587del	ENSP00000499570.2:n.*554_*587del
ENST00000666593.2:c.8992_9025del	ENSP00000499256.2:p.Ser2998IlefsTer19
ENST00000700202.2:c.8954-13_8974del
ENST00000700202.1:c.1421-13_1441del
ENST00000700203.1:n.1119_1152del
ENST00000380152.8:c.8992_9025del MANE Select	ENSP00000369497.3:p.Ser2998IlefsTer19
ENST00000544455.6:c.8992_9025del	ENSP00000439902.1:p.Ser2998IlefsTer19
ENST00000614259.2:c.9000_9033del	ENSP00000506251.1:n.9000_9033del
ENST00000665585.1:c.1870_1903del
ENST00000680887.1:c.8992_9025del	ENSP00000505508.1:p.Ser2998IlefsTer19
ENST00000380152.7:c.8992_9025del	ENSP00000369497.3:p.Ser2998IlefsTer19
ENST00000544455.5:c.8992_9025del	ENSP00000439902.1:p.Ser2998IlefsTer19
NM_000059.3:c.8992_9025del , LRG_293t1:c.8992_9025del	NP_000050.2:p.Ser2998IlefsTer19
XM_011535203.1:c.8992_9025del	XP_011533505.1:p.Ser2998IlefsTer19
XM_011535204.1:c.8896_8929del	XP_011533506.1:p.Ser2966IlefsTer19
XM_011535205.1:c.*30_*63del	XP_011533507.1:n.*30_*63del
NM_000059.4:c.8992_9025del MANE Select	NP_000050.3:p.Ser2998IlefsTer19