Canonical Allele Identifier: CA025943

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 96877
• ClinVar RCV Id: RCV000082998 ; RCV000132352 ; RCV000483142 ; RCV000703275 ; RCV003474688
• dbSNP Id: rs431825373
• MyVariant Identifiers: chr13:g.32953985A>G (hg19) ; chr13:g.32379848A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32379848A>G , CM000675.2:g.32379848A>G	GRCh38
NC_000013.10:g.32953985A>G , CM000675.1:g.32953985A>G	GRCh37
NC_000013.9:g.31851985A>G	NCBI36
NG_012772.3:g.69369A>G , LRG_293:g.69369A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.9052A>G	ENSP00000434898.2:p.Ser3018Gly
ENST00000528762.2:c.*419A>G	ENSP00000433168.2:n.*419A>G
ENST00000530893.7:c.8683A>G	ENSP00000499438.2:p.Ser2895Gly
ENST00000665585.2:c.*614A>G	ENSP00000499570.2:n.*614A>G
ENST00000666593.2:c.9052A>G	ENSP00000499256.2:p.Ser3018Gly
ENST00000700202.2:c.9001A>G	ENSP00000514856.2:p.Ser3001Gly
ENST00000700202.1:c.1468A>G	ENSP00000514856.1:p.Ser490Gly
ENST00000700203.1:n.1179A>G
ENST00000380152.8:c.9052A>G MANE Select	ENSP00000369497.3:p.Ser3018Gly
ENST00000544455.6:c.9052A>G	ENSP00000439902.1:p.Ser3018Gly
ENST00000614259.2:c.9060A>G	ENSP00000506251.1:n.9060A>G
ENST00000665585.1:c.1930A>G
ENST00000680887.1:c.9052A>G	ENSP00000505508.1:p.Ser3018Gly
ENST00000380152.7:c.9052A>G	ENSP00000369497.3:p.Ser3018Gly
ENST00000470094.1:c.9A>G
ENST00000544455.5:c.9052A>G	ENSP00000439902.1:p.Ser3018Gly
NM_000059.3:c.9052A>G , LRG_293t1:c.9052A>G	NP_000050.2:p.Ser3018Gly
XM_011535203.1:c.9052A>G	XP_011533505.1:p.Ser3018Gly
XM_011535204.1:c.8956A>G	XP_011533506.1:p.Ser2986Gly
NM_000059.4:c.9052A>G MANE Select	NP_000050.3:p.Ser3018Gly