Canonical Allele Identifier: CA645586594

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 1049379
• ClinVar RCV Id: RCV001355406
• dbSNP Id: rs2137663534
• COSMIC: COSM5970962 ; COSM5970963

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32398267_32398278del , CM000675.2:g.32398267_32398278del	GRCh38
NC_000013.10:g.32972404_32972415del , CM000675.1:g.32972404_32972415del	GRCh37
NC_000013.9:g.31870404_31870415del	NCBI36
NG_012772.3:g.87788_87799del , LRG_293:g.87788_87799del

Transcript Alleles

HGVS	Amino-acid change
ENST00000470094.2:c.*277_*288del	ENSP00000434898.2:n.*277_*288del
ENST00000528762.2:c.*1121_*1132del	ENSP00000433168.2:n.*1121_*1132del
ENST00000530893.7:c.9385_9396del	ENSP00000499438.2:p.Ser3129_Gly3132del
ENST00000665585.2:c.*1316_*1327del	ENSP00000499570.2:n.*1316_*1327del
ENST00000700202.2:c.9703_9714del	ENSP00000514856.2:p.Ser3235_Gly3238del
ENST00000700202.1:c.2170_2181del	ENSP00000514856.1:p.Ser724_Gly727del
ENST00000700203.1:n.1881_1892del
ENST00000380152.8:c.9754_9765del MANE Select	ENSP00000369497.3:p.Ser3252_Gly3255del
ENST00000544455.6:c.9754_9765del	ENSP00000439902.1:p.Ser3252_Gly3255del
ENST00000614259.2:c.9762_9773del	ENSP00000506251.1:n.9762_9773del
ENST00000680887.1:c.9754_9765del	ENSP00000505508.1:p.Ser3252_Gly3255del
ENST00000380152.7:c.9754_9765del	ENSP00000369497.3:p.Ser3252_Gly3255del
ENST00000533776.1:n.342_353del
ENST00000544455.5:c.9754_9765del	ENSP00000439902.1:p.Ser3252_Gly3255del
NM_000059.3:c.9754_9765del , LRG_293t1:c.9754_9765del	NP_000050.2:p.Ser3252_Gly3255del
XM_011535203.1:c.9754_9765del	XP_011533505.1:p.Ser3252_Gly3255del
XM_011535204.1:c.9658_9669del	XP_011533506.1:p.Ser3220_Gly3223del
NM_000059.4:c.9754_9765del MANE Select	NP_000050.3:p.Ser3252_Gly3255del