Canonical Allele Identifier: CA658656392

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 483060
• ClinVar RCV Id: RCV000568865 ; RCV000985606 ; RCV001858269
• dbSNP Id: rs1555288114
• gnomAD v4: 13-32376665-C-G
• MyVariant Identifiers: chr13:g.32950802C>G (hg19) ; chr13:g.32376665C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32376665C>G , CM000675.2:g.32376665C>G	GRCh38
NC_000013.10:g.32950802C>G , CM000675.1:g.32950802C>G	GRCh37
NC_000013.9:g.31848802C>G	NCBI36
NG_012772.3:g.66186C>G , LRG_293:g.66186C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.8633-5C>G	ENSP00000434898.2:n.8633-5C>G
ENST00000528762.2:c.8697-5C>G	ENSP00000433168.2:n.8697-5C>G
ENST00000530893.7:c.8264-5C>G	ENSP00000499438.2:n.8264-5C>G
ENST00000665585.2:c.*195-5C>G	ENSP00000499570.2:n.*195-5C>G
ENST00000666593.2:c.8633-5C>G	ENSP00000499256.2:n.8633-5C>G
ENST00000700202.2:c.8633-5C>G	ENSP00000514856.2:n.8633-5C>G
ENST00000700202.1:c.1100-5C>G	ENSP00000514856.1:n.1100-5C>G
ENST00000700203.1:n.755C>G
ENST00000380152.8:c.8633-5C>G MANE Select	ENSP00000369497.3:n.8633-5C>G
ENST00000544455.6:c.8633-5C>G	ENSP00000439902.1:n.8633-5C>G
ENST00000614259.2:c.8641-5C>G	ENSP00000506251.1:n.8641-5C>G
ENST00000665585.1:c.1511-5C>G
ENST00000680887.1:c.8633-5C>G	ENSP00000505508.1:n.8633-5C>G
ENST00000380152.7:c.8633-5C>G	ENSP00000369497.3:n.8633-5C>G
ENST00000528762.1:c.195-5C>G	ENSP00000433168.1:n.195-5C>G
ENST00000544455.5:c.8633-5C>G	ENSP00000439902.1:n.8633-5C>G
NM_000059.3:c.8633-5C>G , LRG_293t1:c.8633-5C>G	NP_000050.2:n.8633-5C>G
XM_011535203.1:c.8633-5C>G	XP_011533505.1:n.8633-5C>G
XM_011535204.1:c.8537-5C>G	XP_011533506.1:n.8537-5C>G
XM_011535205.1:c.8633-5C>G	XP_011533507.1:n.8633-5C>G
NM_000059.4:c.8633-5C>G MANE Select	NP_000050.3:n.8633-5C>G