Canonical Allele Identifier: CA025961

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 52742
• ClinVar RCV Id: RCV000045705 ; RCV000114041 ; RCV000129636 ; RCV000520875 ; RCV001171401 ; RCV003460627
• dbSNP Id: rs80359159
• ExAC: 13:32954009 C / G
• gnomAD v2: 13-32954009-C-G
• gnomAD v4: 13-32379872-C-G
• MyVariant Identifiers: chr13:g.32954009C>G (hg19) ; chr13:g.32379872C>G (hg38)
• PubMed: PMID:10923033 ; PMID:12161607

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32379872C>G , CM000675.2:g.32379872C>G	GRCh38
NC_000013.10:g.32954009C>G , CM000675.1:g.32954009C>G	GRCh37
NC_000013.9:g.31852009C>G	NCBI36
NG_012772.3:g.69393C>G , LRG_293:g.69393C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.9076C>G	ENSP00000434898.2:p.Gln3026Glu
ENST00000528762.2:c.*443C>G	ENSP00000433168.2:n.*443C>G
ENST00000530893.7:c.8707C>G	ENSP00000499438.2:p.Gln2903Glu
ENST00000665585.2:c.*638C>G	ENSP00000499570.2:n.*638C>G
ENST00000666593.2:c.9076C>G	ENSP00000499256.2:p.Gln3026Glu
ENST00000700202.2:c.9025C>G	ENSP00000514856.2:p.Gln3009Glu
ENST00000700202.1:c.1492C>G	ENSP00000514856.1:p.Gln498Glu
ENST00000700203.1:n.1203C>G
ENST00000380152.8:c.9076C>G MANE Select	ENSP00000369497.3:p.Gln3026Glu
ENST00000544455.6:c.9076C>G	ENSP00000439902.1:p.Gln3026Glu
ENST00000614259.2:c.9084C>G	ENSP00000506251.1:n.9084C>G
ENST00000665585.1:c.1954C>G
ENST00000680887.1:c.9076C>G	ENSP00000505508.1:p.Gln3026Glu
ENST00000380152.7:c.9076C>G	ENSP00000369497.3:p.Gln3026Glu
ENST00000470094.1:c.33C>G
ENST00000544455.5:c.9076C>G	ENSP00000439902.1:p.Gln3026Glu
NM_000059.3:c.9076C>G , LRG_293t1:c.9076C>G	NP_000050.2:p.Gln3026Glu
XM_011535203.1:c.9076C>G	XP_011533505.1:p.Gln3026Glu
XM_011535204.1:c.8980C>G	XP_011533506.1:p.Gln2994Glu
NM_000059.4:c.9076C>G MANE Select	NP_000050.3:p.Gln3026Glu