Canonical Allele Identifier: CA387761134

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 489797
• ClinVar RCV Id: RCV000580636
• dbSNP Id: rs1555289562
• MyVariant Identifiers: chr13:g.32968926A>C (hg19) ; chr13:g.32394789A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32394789A>C , CM000675.2:g.32394789A>C	GRCh38
NC_000013.10:g.32968926A>C , CM000675.1:g.32968926A>C	GRCh37
NC_000013.9:g.31866926A>C	NCBI36
NG_012772.3:g.84310A>C , LRG_293:g.84310A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.9357A>C	ENSP00000434898.2:p.Leu3119Phe
ENST00000528762.2:c.*724A>C	ENSP00000433168.2:n.*724A>C
ENST00000530893.7:c.8988A>C	ENSP00000499438.2:p.Leu2996Phe
ENST00000665585.2:c.*919A>C	ENSP00000499570.2:n.*919A>C
ENST00000666593.2:c.*202A>C	ENSP00000499256.2:n.*202A>C
ENST00000700202.2:c.9306A>C	ENSP00000514856.2:p.Leu3102Phe
ENST00000700202.1:c.1773A>C	ENSP00000514856.1:p.Leu591Phe
ENST00000700203.1:n.1484A>C
ENST00000380152.8:c.9357A>C MANE Select	ENSP00000369497.3:p.Leu3119Phe
ENST00000544455.6:c.9357A>C	ENSP00000439902.1:p.Leu3119Phe
ENST00000614259.2:c.9365A>C	ENSP00000506251.1:n.9365A>C
ENST00000665585.1:c.2235A>C
ENST00000666593.1:c.379A>C	ENSP00000499256.1:n.379A>C
ENST00000680887.1:c.9357A>C	ENSP00000505508.1:p.Leu3119Phe
ENST00000380152.7:c.9357A>C	ENSP00000369497.3:p.Leu3119Phe
ENST00000470094.1:c.314A>C
ENST00000544455.5:c.9357A>C	ENSP00000439902.1:p.Leu3119Phe
NM_000059.3:c.9357A>C , LRG_293t1:c.9357A>C	NP_000050.2:p.Leu3119Phe
XM_011535203.1:c.9357A>C	XP_011533505.1:p.Leu3119Phe
XM_011535204.1:c.9261A>C	XP_011533506.1:p.Leu3087Phe
NM_000059.4:c.9357A>C MANE Select	NP_000050.3:p.Leu3119Phe