Canonical Allele Identifier: CA387765466

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 1002580
• ClinVar RCV Id: RCV001299028
• dbSNP Id: rs80359240
• MyVariant Identifiers: chr13:g.32972368G>C (hg19) ; chr13:g.32398231G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32398231G>C , CM000675.2:g.32398231G>C	GRCh38
NC_000013.10:g.32972368G>C , CM000675.1:g.32972368G>C	GRCh37
NC_000013.9:g.31870368G>C	NCBI36
NG_012772.3:g.87752G>C , LRG_293:g.87752G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.*241G>C	ENSP00000434898.2:n.*241G>C
ENST00000528762.2:c.*1085G>C	ENSP00000433168.2:n.*1085G>C
ENST00000530893.7:c.9349G>C	ENSP00000499438.2:p.Val3117Leu
ENST00000665585.2:c.*1280G>C	ENSP00000499570.2:n.*1280G>C
ENST00000700202.2:c.9667G>C	ENSP00000514856.2:p.Val3223Leu
ENST00000700202.1:c.2134G>C	ENSP00000514856.1:p.Val712Leu
ENST00000700203.1:n.1845G>C
ENST00000380152.8:c.9718G>C MANE Select	ENSP00000369497.3:p.Val3240Leu
ENST00000544455.6:c.9718G>C	ENSP00000439902.1:p.Val3240Leu
ENST00000614259.2:c.9726G>C	ENSP00000506251.1:n.9726G>C
ENST00000665585.1:c.2596G>C
ENST00000680887.1:c.9718G>C	ENSP00000505508.1:p.Val3240Leu
ENST00000380152.7:c.9718G>C	ENSP00000369497.3:p.Val3240Leu
ENST00000470094.1:c.801G>C
ENST00000533776.1:n.306G>C
ENST00000544455.5:c.9718G>C	ENSP00000439902.1:p.Val3240Leu
NM_000059.3:c.9718G>C , LRG_293t1:c.9718G>C	NP_000050.2:p.Val3240Leu
XM_011535203.1:c.9718G>C	XP_011533505.1:p.Val3240Leu
XM_011535204.1:c.9622G>C	XP_011533506.1:p.Val3208Leu
NM_000059.4:c.9718G>C MANE Select	NP_000050.3:p.Val3240Leu