Canonical Allele Identifier: CA387765139

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 1008199
• ClinVar RCV Id: RCV001305500
• dbSNP Id: rs2073049164
• gnomAD v4: 13-32398178-G-A
• MyVariant Identifiers: chr13:g.32972315G>A (hg19) ; chr13:g.32398178G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32398178G>A , CM000675.2:g.32398178G>A	GRCh38
NC_000013.10:g.32972315G>A , CM000675.1:g.32972315G>A	GRCh37
NC_000013.9:g.31870315G>A	NCBI36
NG_012772.3:g.87699G>A , LRG_293:g.87699G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000470094.2:c.*188G>A	ENSP00000434898.2:n.*188G>A
ENST00000528762.2:c.*1032G>A	ENSP00000433168.2:n.*1032G>A
ENST00000530893.7:c.9296G>A	ENSP00000499438.2:p.Cys3099Tyr
ENST00000665585.2:c.*1227G>A	ENSP00000499570.2:n.*1227G>A
ENST00000700202.2:c.9614G>A	ENSP00000514856.2:p.Cys3205Tyr
ENST00000700202.1:c.2081G>A	ENSP00000514856.1:p.Cys694Tyr
ENST00000700203.1:n.1792G>A
ENST00000380152.8:c.9665G>A MANE Select	ENSP00000369497.3:p.Cys3222Tyr
ENST00000544455.6:c.9665G>A	ENSP00000439902.1:p.Cys3222Tyr
ENST00000614259.2:c.9673G>A	ENSP00000506251.1:n.9673G>A
ENST00000665585.1:c.2543G>A
ENST00000680887.1:c.9665G>A	ENSP00000505508.1:p.Cys3222Tyr
ENST00000380152.7:c.9665G>A	ENSP00000369497.3:p.Cys3222Tyr
ENST00000470094.1:c.748G>A
ENST00000533776.1:n.253G>A
ENST00000544455.5:c.9665G>A	ENSP00000439902.1:p.Cys3222Tyr
NM_000059.3:c.9665G>A , LRG_293t1:c.9665G>A	NP_000050.2:p.Cys3222Tyr
XM_011535203.1:c.9665G>A	XP_011533505.1:p.Cys3222Tyr
XM_011535204.1:c.9569G>A	XP_011533506.1:p.Cys3190Tyr
NM_000059.4:c.9665G>A MANE Select	NP_000050.3:p.Cys3222Tyr