Canonical Allele Identifier: CA387763163

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 2445320
• ClinVar RCV Id: RCV003154730 ; RCV003530281
• MyVariant Identifiers: chr13:g.32971078A>C (hg19) ; chr13:g.32396941A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32396941A>C , CM000675.2:g.32396941A>C	GRCh38
NC_000013.10:g.32971078A>C , CM000675.1:g.32971078A>C	GRCh37
NC_000013.9:g.31869078A>C	NCBI36
NG_012772.3:g.86462A>C , LRG_293:g.86462A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000470094.2:c.*68A>C	ENSP00000434898.2:n.*68A>C
ENST00000528762.2:c.*912A>C	ENSP00000433168.2:n.*912A>C
ENST00000530893.7:c.9176A>C	ENSP00000499438.2:p.His3059Pro
ENST00000665585.2:c.*1107A>C	ENSP00000499570.2:n.*1107A>C
ENST00000700202.2:c.9494A>C	ENSP00000514856.2:p.His3165Pro
ENST00000700202.1:c.1961A>C	ENSP00000514856.1:p.His654Pro
ENST00000700203.1:n.1672A>C
ENST00000380152.8:c.9545A>C MANE Select	ENSP00000369497.3:p.His3182Pro
ENST00000544455.6:c.9545A>C	ENSP00000439902.1:p.His3182Pro
ENST00000614259.2:c.9553A>C	ENSP00000506251.1:n.9553A>C
ENST00000665585.1:c.2423A>C
ENST00000680887.1:c.9545A>C	ENSP00000505508.1:p.His3182Pro
ENST00000380152.7:c.9545A>C	ENSP00000369497.3:p.His3182Pro
ENST00000470094.1:c.628A>C
ENST00000533776.1:n.133A>C
ENST00000544455.5:c.9545A>C	ENSP00000439902.1:p.His3182Pro
NM_000059.3:c.9545A>C , LRG_293t1:c.9545A>C	NP_000050.2:p.His3182Pro
XM_011535203.1:c.9545A>C	XP_011533505.1:p.His3182Pro
XM_011535204.1:c.9449A>C	XP_011533506.1:p.His3150Pro
NM_000059.4:c.9545A>C MANE Select	NP_000050.3:p.His3182Pro