Canonical Allele Identifier: CA6941311

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 1969981
• ClinVar RCV Id: RCV002760287
• dbSNP Id: rs781715267
• ExAC: 13:32953629 A / C
• gnomAD v2: 13-32953629-A-C
• gnomAD v4: 13-32379492-A-C
• MyVariant Identifiers: chr13:g.32953629A>C (hg19) ; chr13:g.32379492A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32379492A>C , CM000675.2:g.32379492A>C	GRCh38
NC_000013.10:g.32953629A>C , CM000675.1:g.32953629A>C	GRCh37
NC_000013.9:g.31851629A>C	NCBI36
NG_012772.3:g.69013A>C , LRG_293:g.69013A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.8930A>C	ENSP00000434898.2:p.Tyr2977Ser
ENST00000528762.2:c.*297A>C	ENSP00000433168.2:n.*297A>C
ENST00000530893.7:c.8561A>C	ENSP00000499438.2:p.Tyr2854Ser
ENST00000665585.2:c.*492A>C	ENSP00000499570.2:n.*492A>C
ENST00000666593.2:c.8930A>C	ENSP00000499256.2:p.Tyr2977Ser
ENST00000700202.2:c.8930A>C	ENSP00000514856.2:p.Tyr2977Ser
ENST00000700202.1:c.1397A>C	ENSP00000514856.1:p.Tyr466Ser
ENST00000700203.1:n.1057A>C
ENST00000380152.8:c.8930A>C MANE Select	ENSP00000369497.3:p.Tyr2977Ser
ENST00000544455.6:c.8930A>C	ENSP00000439902.1:p.Tyr2977Ser
ENST00000614259.2:c.8938A>C	ENSP00000506251.1:n.8938A>C
ENST00000665585.1:c.1808A>C
ENST00000680887.1:c.8930A>C	ENSP00000505508.1:p.Tyr2977Ser
ENST00000380152.7:c.8930A>C	ENSP00000369497.3:p.Tyr2977Ser
ENST00000528762.1:c.492A>C	ENSP00000433168.1:n.492A>C
ENST00000544455.5:c.8930A>C	ENSP00000439902.1:p.Tyr2977Ser
NM_000059.3:c.8930A>C , LRG_293t1:c.8930A>C	NP_000050.2:p.Tyr2977Ser
XM_011535203.1:c.8930A>C	XP_011533505.1:p.Tyr2977Ser
XM_011535204.1:c.8834A>C	XP_011533506.1:p.Tyr2945Ser
XM_011535205.1:c.8755-258A>C	XP_011533507.1:n.8755-258A>C
NM_000059.4:c.8930A>C MANE Select	NP_000050.3:p.Tyr2977Ser