Canonical Allele Identifier: CA658823631

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 548363
• ClinVar RCV Id: RCV000661563 ; RCV000709305
• dbSNP Id: rs1555282757
• MyVariant Identifiers: chr13:g.32911113_32911114insG (hg19) ; chr13:g.32336976_32336977insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32336976_32336977insG , CM000675.2:g.32336976_32336977insG	GRCh38
NC_000013.10:g.32911113_32911114insG , CM000675.1:g.32911113_32911114insG	GRCh37
NC_000013.9:g.31809113_31809114insG	NCBI36
NG_012772.3:g.26497_26498insG , LRG_293:g.26497_26498insG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.2621_2622insG	ENSP00000434898.2:p.Val875CysfsTer6
ENST00000528762.2:c.2621_2622insG	ENSP00000433168.2:p.Val875CysfsTer6
ENST00000530893.7:c.2252_2253insG	ENSP00000499438.2:p.Val752CysfsTer6
ENST00000665585.2:c.2621_2622insG	ENSP00000499570.2:p.Val875CysfsTer6
ENST00000666593.2:c.2621_2622insG	ENSP00000499256.2:p.Val875CysfsTer6
ENST00000700202.2:c.2621_2622insG	ENSP00000514856.2:p.Val875CysfsTer6
ENST00000380152.8:c.2621_2622insG MANE Select	ENSP00000369497.3:p.Val875CysfsTer6
ENST00000544455.6:c.2621_2622insG	ENSP00000439902.1:p.Val875CysfsTer6
ENST00000614259.2:c.2621_2622insG	ENSP00000506251.1:p.Val875CysfsTer6
ENST00000680887.1:c.2621_2622insG	ENSP00000505508.1:p.Val875CysfsTer6
ENST00000380152.7:c.2621_2622insG	ENSP00000369497.3:p.Val875CysfsTer6
ENST00000544455.5:c.2621_2622insG	ENSP00000439902.1:p.Val875CysfsTer6
ENST00000614259.1:n.2621_2622insG
NM_000059.3:c.2621_2622insG , LRG_293t1:c.2621_2622insG	NP_000050.2:p.Val875CysfsTer6
XM_011535203.1:c.2621_2622insG	XP_011533505.1:p.Val875CysfsTer6
XM_011535204.1:c.2621_2622insG	XP_011533506.1:p.Val875CysfsTer6
XM_011535205.1:c.2621_2622insG	XP_011533507.1:p.Val875CysfsTer6
NM_000059.4:c.2621_2622insG MANE Select	NP_000050.3:p.Val875CysfsTer6