Canonical Allele Identifier: CA387768146

Gene: BRCA2

Linked Data

• dbSNP Id: rs1175484982
• MyVariant Identifiers: chr13:g.32972795T>A (hg19) ; chr13:g.32398658T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32398658T>A , CM000675.2:g.32398658T>A	GRCh38
NC_000013.10:g.32972795T>A , CM000675.1:g.32972795T>A	GRCh37
NC_000013.9:g.31870795T>A	NCBI36
NG_012772.3:g.88179T>A , LRG_293:g.88179T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000470094.2:c.*668T>A	ENSP00000434898.2:n.*668T>A
ENST00000528762.2:c.*1512T>A	ENSP00000433168.2:n.*1512T>A
ENST00000530893.7:c.9776T>A	ENSP00000499438.2:p.Leu3259Gln
ENST00000665585.2:c.*1707T>A	ENSP00000499570.2:n.*1707T>A
ENST00000700202.2:c.10094T>A	ENSP00000514856.2:p.Leu3365Gln
ENST00000700202.1:c.2561T>A	ENSP00000514856.1:p.Leu854Gln
ENST00000700203.1:n.2272T>A
ENST00000380152.8:c.10145T>A MANE Select	ENSP00000369497.3:p.Leu3382Gln
ENST00000544455.6:c.10145T>A	ENSP00000439902.1:p.Leu3382Gln
ENST00000614259.2:c.10153T>A	ENSP00000506251.1:n.10153T>A
ENST00000680887.1:c.10145T>A	ENSP00000505508.1:p.Leu3382Gln
ENST00000380152.7:c.10145T>A	ENSP00000369497.3:p.Leu3382Gln
ENST00000544455.5:c.10145T>A	ENSP00000439902.1:p.Leu3382Gln
NM_000059.3:c.10145T>A , LRG_293t1:c.10145T>A	NP_000050.2:p.Leu3382Gln
XM_011535203.1:c.10145T>A	XP_011533505.1:p.Leu3382Gln
XM_011535204.1:c.10049T>A	XP_011533506.1:p.Leu3350Gln
NM_000059.4:c.10145T>A MANE Select	NP_000050.3:p.Leu3382Gln