Canonical Allele Identifier: CA387767306

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 619824
• ClinVar RCV Id: RCV000759699 ; RCV003530096
• dbSNP Id: rs1566261221
• gnomAD v4: 13-32398463-T-A
• MyVariant Identifiers: chr13:g.32972600T>A (hg19) ; chr13:g.32398463T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32398463T>A , CM000675.2:g.32398463T>A	GRCh38
NC_000013.10:g.32972600T>A , CM000675.1:g.32972600T>A	GRCh37
NC_000013.9:g.31870600T>A	NCBI36
NG_012772.3:g.87984T>A , LRG_293:g.87984T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.*473T>A	ENSP00000434898.2:n.*473T>A
ENST00000528762.2:c.*1317T>A	ENSP00000433168.2:n.*1317T>A
ENST00000530893.7:c.9581T>A	ENSP00000499438.2:p.Leu3194Gln
ENST00000665585.2:c.*1512T>A	ENSP00000499570.2:n.*1512T>A
ENST00000700202.2:c.9899T>A	ENSP00000514856.2:p.Leu3300Gln
ENST00000700202.1:c.2366T>A	ENSP00000514856.1:p.Leu789Gln
ENST00000700203.1:n.2077T>A
ENST00000380152.8:c.9950T>A MANE Select	ENSP00000369497.3:p.Leu3317Gln
ENST00000544455.6:c.9950T>A	ENSP00000439902.1:p.Leu3317Gln
ENST00000614259.2:c.9958T>A	ENSP00000506251.1:n.9958T>A
ENST00000680887.1:c.9950T>A	ENSP00000505508.1:p.Leu3317Gln
ENST00000380152.7:c.9950T>A	ENSP00000369497.3:p.Leu3317Gln
ENST00000544455.5:c.9950T>A	ENSP00000439902.1:p.Leu3317Gln
NM_000059.3:c.9950T>A , LRG_293t1:c.9950T>A	NP_000050.2:p.Leu3317Gln
XM_011535203.1:c.9950T>A	XP_011533505.1:p.Leu3317Gln
XM_011535204.1:c.9854T>A	XP_011533506.1:p.Leu3285Gln
NM_000059.4:c.9950T>A MANE Select	NP_000050.3:p.Leu3317Gln