Canonical Allele Identifier: CA387765331

Gene: BRCA2

Linked Data

• dbSNP Id: rs2137662933
• MyVariant Identifiers: chr13:g.32972345T>C (hg19) ; chr13:g.32398208T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32398208T>C , CM000675.2:g.32398208T>C	GRCh38
NC_000013.10:g.32972345T>C , CM000675.1:g.32972345T>C	GRCh37
NC_000013.9:g.31870345T>C	NCBI36
NG_012772.3:g.87729T>C , LRG_293:g.87729T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.*218T>C	ENSP00000434898.2:n.*218T>C
ENST00000528762.2:c.*1062T>C	ENSP00000433168.2:n.*1062T>C
ENST00000530893.7:c.9326T>C	ENSP00000499438.2:p.Leu3109Pro
ENST00000665585.2:c.*1257T>C	ENSP00000499570.2:n.*1257T>C
ENST00000700202.2:c.9644T>C	ENSP00000514856.2:p.Leu3215Pro
ENST00000700202.1:c.2111T>C	ENSP00000514856.1:p.Leu704Pro
ENST00000700203.1:n.1822T>C
ENST00000380152.8:c.9695T>C MANE Select	ENSP00000369497.3:p.Leu3232Pro
ENST00000544455.6:c.9695T>C	ENSP00000439902.1:p.Leu3232Pro
ENST00000614259.2:c.9703T>C	ENSP00000506251.1:n.9703T>C
ENST00000665585.1:c.2573T>C
ENST00000680887.1:c.9695T>C	ENSP00000505508.1:p.Leu3232Pro
ENST00000380152.7:c.9695T>C	ENSP00000369497.3:p.Leu3232Pro
ENST00000470094.1:c.778T>C
ENST00000533776.1:n.283T>C
ENST00000544455.5:c.9695T>C	ENSP00000439902.1:p.Leu3232Pro
NM_000059.3:c.9695T>C , LRG_293t1:c.9695T>C	NP_000050.2:p.Leu3232Pro
XM_011535203.1:c.9695T>C	XP_011533505.1:p.Leu3232Pro
XM_011535204.1:c.9599T>C	XP_011533506.1:p.Leu3200Pro
NM_000059.4:c.9695T>C MANE Select	NP_000050.3:p.Leu3232Pro