Canonical Allele Identifier: CA387766464

Gene: BRCA2

Linked Data

• dbSNP Id: rs2137664398
• MyVariant Identifiers: chr13:g.32972498T>G (hg19) ; chr13:g.32398361T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32398361T>G , CM000675.2:g.32398361T>G	GRCh38
NC_000013.10:g.32972498T>G , CM000675.1:g.32972498T>G	GRCh37
NC_000013.9:g.31870498T>G	NCBI36
NG_012772.3:g.87882T>G , LRG_293:g.87882T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.*371T>G	ENSP00000434898.2:n.*371T>G
ENST00000528762.2:c.*1215T>G	ENSP00000433168.2:n.*1215T>G
ENST00000530893.7:c.9479T>G	ENSP00000499438.2:p.Val3160Gly
ENST00000665585.2:c.*1410T>G	ENSP00000499570.2:n.*1410T>G
ENST00000700202.2:c.9797T>G	ENSP00000514856.2:p.Val3266Gly
ENST00000700202.1:c.2264T>G	ENSP00000514856.1:p.Val755Gly
ENST00000700203.1:n.1975T>G
ENST00000380152.8:c.9848T>G MANE Select	ENSP00000369497.3:p.Val3283Gly
ENST00000544455.6:c.9848T>G	ENSP00000439902.1:p.Val3283Gly
ENST00000614259.2:c.9856T>G	ENSP00000506251.1:n.9856T>G
ENST00000680887.1:c.9848T>G	ENSP00000505508.1:p.Val3283Gly
ENST00000380152.7:c.9848T>G	ENSP00000369497.3:p.Val3283Gly
ENST00000533776.1:n.436T>G
ENST00000544455.5:c.9848T>G	ENSP00000439902.1:p.Val3283Gly
NM_000059.3:c.9848T>G , LRG_293t1:c.9848T>G	NP_000050.2:p.Val3283Gly
XM_011535203.1:c.9848T>G	XP_011533505.1:p.Val3283Gly
XM_011535204.1:c.9752T>G	XP_011533506.1:p.Val3251Gly
NM_000059.4:c.9848T>G MANE Select	NP_000050.3:p.Val3283Gly