Canonical Allele Identifier: CA387765859

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 1768153
• ClinVar RCV Id: RCV002387158
• dbSNP Id: rs879255305
• MyVariant Identifiers: chr13:g.32972426T>G (hg19) ; chr13:g.32398289T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32398289T>G , CM000675.2:g.32398289T>G	GRCh38
NC_000013.10:g.32972426T>G , CM000675.1:g.32972426T>G	GRCh37
NC_000013.9:g.31870426T>G	NCBI36
NG_012772.3:g.87810T>G , LRG_293:g.87810T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.*299T>G	ENSP00000434898.2:n.*299T>G
ENST00000528762.2:c.*1143T>G	ENSP00000433168.2:n.*1143T>G
ENST00000530893.7:c.9407T>G	ENSP00000499438.2:p.Ile3136Ser
ENST00000665585.2:c.*1338T>G	ENSP00000499570.2:n.*1338T>G
ENST00000700202.2:c.9725T>G	ENSP00000514856.2:p.Ile3242Ser
ENST00000700202.1:c.2192T>G	ENSP00000514856.1:p.Ile731Ser
ENST00000700203.1:n.1903T>G
ENST00000380152.8:c.9776T>G MANE Select	ENSP00000369497.3:p.Ile3259Ser
ENST00000544455.6:c.9776T>G	ENSP00000439902.1:p.Ile3259Ser
ENST00000614259.2:c.9784T>G	ENSP00000506251.1:n.9784T>G
ENST00000680887.1:c.9776T>G	ENSP00000505508.1:p.Ile3259Ser
ENST00000380152.7:c.9776T>G	ENSP00000369497.3:p.Ile3259Ser
ENST00000533776.1:n.364T>G
ENST00000544455.5:c.9776T>G	ENSP00000439902.1:p.Ile3259Ser
NM_000059.3:c.9776T>G , LRG_293t1:c.9776T>G	NP_000050.2:p.Ile3259Ser
XM_011535203.1:c.9776T>G	XP_011533505.1:p.Ile3259Ser
XM_011535204.1:c.9680T>G	XP_011533506.1:p.Ile3227Ser
NM_000059.4:c.9776T>G MANE Select	NP_000050.3:p.Ile3259Ser