Canonical Allele Identifier: CA247490134

Gene: BRCA2

Linked Data

• dbSNP Id: rs796536086
• gnomAD v2: 13-32950318-CT-C
• gnomAD v3: 13-32376181-CT-C
• gnomAD v4: 13-32376181-CT-C
• COSMIC: COSN1157602
• MyVariant Identifiers: chr13:g.32950320del (hg19) ; chr13:g.32950319del (hg19) ; chr13:g.32376183del (hg38) ; chr13:g.32376182del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32376194del , CM000675.2:g.32376194del	GRCh38
NC_000013.10:g.32950331del , CM000675.1:g.32950331del	GRCh37
NC_000013.9:g.31848331del	NCBI36
NG_012772.3:g.65715del , LRG_293:g.65715del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.8633-476del	ENSP00000434898.2:n.8633-476del
ENST00000528762.2:c.8697-476del	ENSP00000433168.2:n.8697-476del
ENST00000530893.7:c.8264-476del	ENSP00000499438.2:n.8264-476del
ENST00000665585.2:c.*195-476del	ENSP00000499570.2:n.*195-476del
ENST00000666593.2:c.8633-476del	ENSP00000499256.2:n.8633-476del
ENST00000700202.2:c.8633-476del	ENSP00000514856.2:n.8633-476del
ENST00000700202.1:c.1100-476del	ENSP00000514856.1:n.1100-476del
ENST00000700203.1:n.284del
ENST00000380152.8:c.8633-476del MANE Select	ENSP00000369497.3:n.8633-476del
ENST00000544455.6:c.8633-476del	ENSP00000439902.1:n.8633-476del
ENST00000614259.2:c.8641-476del	ENSP00000506251.1:n.8641-476del
ENST00000665585.1:c.1511-476del
ENST00000680887.1:c.8633-476del	ENSP00000505508.1:n.8633-476del
ENST00000380152.7:c.8633-476del	ENSP00000369497.3:n.8633-476del
ENST00000528762.1:c.195-476del	ENSP00000433168.1:n.195-476del
ENST00000544455.5:c.8633-476del	ENSP00000439902.1:n.8633-476del
NM_000059.3:c.8633-476del , LRG_293t1:c.8633-476del	NP_000050.2:n.8633-476del
XM_011535203.1:c.8633-476del	XP_011533505.1:n.8633-476del
XM_011535204.1:c.8537-476del	XP_011533506.1:n.8537-476del
XM_011535205.1:c.8633-476del	XP_011533507.1:n.8633-476del
NM_000059.4:c.8633-476del MANE Select	NP_000050.3:n.8633-476del