Canonical Allele Identifier: CA387757064

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 926098
• ClinVar RCV Id: RCV001188487 ; RCV002295334 ; RCV003153938 ; RCV002282474
• dbSNP Id: rs1204909245
• MyVariant Identifiers: chr13:g.32900255G>A (hg19) ; chr13:g.32326118G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32326118G>A , CM000675.2:g.32326118G>A	GRCh38
NC_000013.10:g.32900255G>A , CM000675.1:g.32900255G>A	GRCh37
NC_000013.9:g.31798255G>A	NCBI36
NG_012772.3:g.15639G>A , LRG_293:g.15639G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.443G>A	ENSP00000434898.2:p.Cys148Tyr
ENST00000528762.2:c.443G>A	ENSP00000433168.2:p.Cys148Tyr
ENST00000530893.7:c.74G>A	ENSP00000499438.2:p.Cys25Tyr
ENST00000665585.2:c.443G>A	ENSP00000499570.2:p.Cys148Tyr
ENST00000666593.2:c.443G>A	ENSP00000499256.2:p.Cys148Tyr
ENST00000700202.2:c.443G>A	ENSP00000514856.2:p.Cys148Tyr
ENST00000700200.1:n.314G>A
ENST00000700201.1:c.*222G>A	ENSP00000514855.1:n.*222G>A
ENST00000380152.8:c.443G>A MANE Select	ENSP00000369497.3:p.Cys148Tyr
ENST00000544455.6:c.443G>A	ENSP00000439902.1:p.Cys148Tyr
ENST00000614259.2:c.443G>A	ENSP00000506251.1:p.Cys148Tyr
ENST00000680887.1:c.443G>A	ENSP00000505508.1:p.Cys148Tyr
ENST00000380152.7:c.443G>A	ENSP00000369497.3:p.Cys148Tyr
ENST00000530893.6:n.641G>A
ENST00000544455.5:c.443G>A	ENSP00000439902.1:p.Cys148Tyr
ENST00000614259.1:n.443G>A
NM_000059.3:c.443G>A , LRG_293t1:c.443G>A	NP_000050.2:p.Cys148Tyr
XM_011535203.1:c.443G>A	XP_011533505.1:p.Cys148Tyr
XM_011535204.1:c.443G>A	XP_011533506.1:p.Cys148Tyr
XM_011535205.1:c.443G>A	XP_011533507.1:p.Cys148Tyr
NM_000059.4:c.443G>A MANE Select	NP_000050.3:p.Cys148Tyr