Canonical Allele Identifier: CA387767659

Gene: BRCA2

Linked Data

• dbSNP Id: rs1555290017
• MyVariant Identifiers: chr13:g.32972650T>A (hg19) ; chr13:g.32398513T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32398513T>A , CM000675.2:g.32398513T>A	GRCh38
NC_000013.10:g.32972650T>A , CM000675.1:g.32972650T>A	GRCh37
NC_000013.9:g.31870650T>A	NCBI36
NG_012772.3:g.88034T>A , LRG_293:g.88034T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.*523T>A	ENSP00000434898.2:n.*523T>A
ENST00000528762.2:c.*1367T>A	ENSP00000433168.2:n.*1367T>A
ENST00000530893.7:c.9631T>A	ENSP00000499438.2:p.Leu3211Met
ENST00000665585.2:c.*1562T>A	ENSP00000499570.2:n.*1562T>A
ENST00000700202.2:c.9949T>A	ENSP00000514856.2:p.Leu3317Met
ENST00000700202.1:c.2416T>A	ENSP00000514856.1:p.Leu806Met
ENST00000700203.1:n.2127T>A
ENST00000380152.8:c.10000T>A MANE Select	ENSP00000369497.3:p.Leu3334Met
ENST00000544455.6:c.10000T>A	ENSP00000439902.1:p.Leu3334Met
ENST00000614259.2:c.10008T>A	ENSP00000506251.1:n.10008T>A
ENST00000680887.1:c.10000T>A	ENSP00000505508.1:p.Leu3334Met
ENST00000380152.7:c.10000T>A	ENSP00000369497.3:p.Leu3334Met
ENST00000544455.5:c.10000T>A	ENSP00000439902.1:p.Leu3334Met
NM_000059.3:c.10000T>A , LRG_293t1:c.10000T>A	NP_000050.2:p.Leu3334Met
XM_011535203.1:c.10000T>A	XP_011533505.1:p.Leu3334Met
XM_011535204.1:c.9904T>A	XP_011533506.1:p.Leu3302Met
NM_000059.4:c.10000T>A MANE Select	NP_000050.3:p.Leu3334Met