Canonical Allele Identifier: CA348803

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 221071
• ClinVar RCV Id: RCV000204579 ; RCV000225419 ; RCV002372206
• dbSNP Id: rs864622735
• MyVariant Identifiers: chr13:g.32953601_32953612delinsTCCC (hg19) ; chr13:g.32379464_32379475delinsTCCC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32379464_32379475delinsTCCC , CM000675.2:g.32379464_32379475delinsTCCC	GRCh38
NC_000013.10:g.32953601_32953612delinsTCCC , CM000675.1:g.32953601_32953612delinsTCCC	GRCh37
NC_000013.9:g.31851601_31851612delinsTCCC	NCBI36
NG_012772.3:g.68985_68996delinsTCCC , LRG_293:g.68985_68996delinsTCCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.8902_8913delinsTCCC	ENSP00000434898.2:p.Thr2968SerfsTer?
ENST00000528762.2:c.*269_*280delinsTCCC	ENSP00000433168.2:n.*269_*280delinsTCCC
ENST00000530893.7:c.8533_8544delinsTCCC	ENSP00000499438.2:p.Thr2845SerfsTer?
ENST00000665585.2:c.*464_*475delinsTCCC	ENSP00000499570.2:n.*464_*475delinsTCCC
ENST00000666593.2:c.8902_8913delinsTCCC	ENSP00000499256.2:p.Thr2968SerfsTer?
ENST00000700202.2:c.8902_8913delinsTCCC	ENSP00000514856.2:p.Thr2968SerfsTer30
ENST00000700202.1:c.1369_1380delinsTCCC	ENSP00000514856.1:p.Thr457SerfsTer30
ENST00000700203.1:n.1029_1040delinsTCCC
ENST00000380152.8:c.8902_8913delinsTCCC MANE Select	ENSP00000369497.3:p.Thr2968SerfsTer?
ENST00000544455.6:c.8902_8913delinsTCCC	ENSP00000439902.1:p.Thr2968SerfsTer?
ENST00000614259.2:c.8910_8921delinsTCCC	ENSP00000506251.1:n.8910_8921delinsTCCC
ENST00000665585.1:c.1780_1791delinsTCCC
ENST00000680887.1:c.8902_8913delinsTCCC	ENSP00000505508.1:p.Thr2968SerfsTer?
ENST00000380152.7:c.8902_8913delinsTCCC	ENSP00000369497.3:p.Thr2968SerfsTer?
ENST00000528762.1:c.464_475delinsTCCC	ENSP00000433168.1:n.464_475delinsTCCC
ENST00000544455.5:c.8902_8913delinsTCCC	ENSP00000439902.1:p.Thr2968SerfsTer?
NM_000059.3:c.8902_8913delinsTCCC , LRG_293t1:c.8902_8913delinsTCCC	NP_000050.2:p.Thr2968SerfsTer?
XM_011535203.1:c.8902_8913delinsTCCC	XP_011533505.1:p.Thr2968SerfsTer?
XM_011535204.1:c.8806_8817delinsTCCC	XP_011533506.1:p.Thr2936SerfsTer?
XM_011535205.1:c.8755-286_8755-275delinsTCCC	XP_011533507.1:n.8755-286_8755-275delinsTCCC
NM_000059.4:c.8902_8913delinsTCCC MANE Select	NP_000050.3:p.Thr2968SerfsTer?