Canonical Allele Identifier: CA387767851

Gene: BRCA2

Linked Data

• dbSNP Id: rs960693786
• MyVariant Identifiers: chr13:g.32972705T>A (hg19) ; chr13:g.32398568T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32398568T>A , CM000675.2:g.32398568T>A	GRCh38
NC_000013.10:g.32972705T>A , CM000675.1:g.32972705T>A	GRCh37
NC_000013.9:g.31870705T>A	NCBI36
NG_012772.3:g.88089T>A , LRG_293:g.88089T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000470094.2:c.*578T>A	ENSP00000434898.2:n.*578T>A
ENST00000528762.2:c.*1422T>A	ENSP00000433168.2:n.*1422T>A
ENST00000530893.7:c.9686T>A	ENSP00000499438.2:p.Leu3229His
ENST00000665585.2:c.*1617T>A	ENSP00000499570.2:n.*1617T>A
ENST00000700202.2:c.10004T>A	ENSP00000514856.2:p.Leu3335His
ENST00000700202.1:c.2471T>A	ENSP00000514856.1:p.Leu824His
ENST00000700203.1:n.2182T>A
ENST00000380152.8:c.10055T>A MANE Select	ENSP00000369497.3:p.Leu3352His
ENST00000544455.6:c.10055T>A	ENSP00000439902.1:p.Leu3352His
ENST00000614259.2:c.10063T>A	ENSP00000506251.1:n.10063T>A
ENST00000680887.1:c.10055T>A	ENSP00000505508.1:p.Leu3352His
ENST00000380152.7:c.10055T>A	ENSP00000369497.3:p.Leu3352His
ENST00000544455.5:c.10055T>A	ENSP00000439902.1:p.Leu3352His
NM_000059.3:c.10055T>A , LRG_293t1:c.10055T>A	NP_000050.2:p.Leu3352His
XM_011535203.1:c.10055T>A	XP_011533505.1:p.Leu3352His
XM_011535204.1:c.9959T>A	XP_011533506.1:p.Leu3320His
NM_000059.4:c.10055T>A MANE Select	NP_000050.3:p.Leu3352His