Canonical Allele Identifier: CA387763203

Gene: BRCA2

Linked Data

• dbSNP Id: rs863224601
• MyVariant Identifiers: chr13:g.32971084T>A (hg19) ; chr13:g.32396947T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32396947T>A , CM000675.2:g.32396947T>A	GRCh38
NC_000013.10:g.32971084T>A , CM000675.1:g.32971084T>A	GRCh37
NC_000013.9:g.31869084T>A	NCBI36
NG_012772.3:g.86468T>A , LRG_293:g.86468T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.*74T>A	ENSP00000434898.2:n.*74T>A
ENST00000528762.2:c.*918T>A	ENSP00000433168.2:n.*918T>A
ENST00000530893.7:c.9182T>A	ENSP00000499438.2:p.Leu3061Gln
ENST00000665585.2:c.*1113T>A	ENSP00000499570.2:n.*1113T>A
ENST00000700202.2:c.9500T>A	ENSP00000514856.2:p.Leu3167Gln
ENST00000700202.1:c.1967T>A	ENSP00000514856.1:p.Leu656Gln
ENST00000700203.1:n.1678T>A
ENST00000380152.8:c.9551T>A MANE Select	ENSP00000369497.3:p.Leu3184Gln
ENST00000544455.6:c.9551T>A	ENSP00000439902.1:p.Leu3184Gln
ENST00000614259.2:c.9559T>A	ENSP00000506251.1:n.9559T>A
ENST00000665585.1:c.2429T>A
ENST00000680887.1:c.9551T>A	ENSP00000505508.1:p.Leu3184Gln
ENST00000380152.7:c.9551T>A	ENSP00000369497.3:p.Leu3184Gln
ENST00000470094.1:c.634T>A
ENST00000533776.1:n.139T>A
ENST00000544455.5:c.9551T>A	ENSP00000439902.1:p.Leu3184Gln
NM_000059.3:c.9551T>A , LRG_293t1:c.9551T>A	NP_000050.2:p.Leu3184Gln
XM_011535203.1:c.9551T>A	XP_011533505.1:p.Leu3184Gln
XM_011535204.1:c.9455T>A	XP_011533506.1:p.Leu3152Gln
NM_000059.4:c.9551T>A MANE Select	NP_000050.3:p.Leu3184Gln