Canonical Allele Identifier: CA387765435

Gene: BRCA2

Linked Data

• dbSNP Id: rs1131692101
• MyVariant Identifiers: chr13:g.32972361G>C (hg19) ; chr13:g.32398224G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32398224G>C , CM000675.2:g.32398224G>C	GRCh38
NC_000013.10:g.32972361G>C , CM000675.1:g.32972361G>C	GRCh37
NC_000013.9:g.31870361G>C	NCBI36
NG_012772.3:g.87745G>C , LRG_293:g.87745G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.*234G>C	ENSP00000434898.2:n.*234G>C
ENST00000528762.2:c.*1078G>C	ENSP00000433168.2:n.*1078G>C
ENST00000530893.7:c.9342G>C	ENSP00000499438.2:p.Arg3114Ser
ENST00000665585.2:c.*1273G>C	ENSP00000499570.2:n.*1273G>C
ENST00000700202.2:c.9660G>C	ENSP00000514856.2:p.Arg3220Ser
ENST00000700202.1:c.2127G>C	ENSP00000514856.1:p.Arg709Ser
ENST00000700203.1:n.1838G>C
ENST00000380152.8:c.9711G>C MANE Select	ENSP00000369497.3:p.Arg3237Ser
ENST00000544455.6:c.9711G>C	ENSP00000439902.1:p.Arg3237Ser
ENST00000614259.2:c.9719G>C	ENSP00000506251.1:n.9719G>C
ENST00000665585.1:c.2589G>C
ENST00000680887.1:c.9711G>C	ENSP00000505508.1:p.Arg3237Ser
ENST00000380152.7:c.9711G>C	ENSP00000369497.3:p.Arg3237Ser
ENST00000470094.1:c.794G>C
ENST00000533776.1:n.299G>C
ENST00000544455.5:c.9711G>C	ENSP00000439902.1:p.Arg3237Ser
NM_000059.3:c.9711G>C , LRG_293t1:c.9711G>C	NP_000050.2:p.Arg3237Ser
XM_011535203.1:c.9711G>C	XP_011533505.1:p.Arg3237Ser
XM_011535204.1:c.9615G>C	XP_011533506.1:p.Arg3205Ser
NM_000059.4:c.9711G>C MANE Select	NP_000050.3:p.Arg3237Ser