Canonical Allele Identifier: CA387747238

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 1721712
• ClinVar RCV Id: RCV002294963
• dbSNP Id: rs2072748397
• COSMIC: COSM432316 ; COSM432317
• MyVariant Identifiers: chr13:g.32936802G>C (hg19) ; chr13:g.32362665G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32362665G>C , CM000675.2:g.32362665G>C	GRCh38
NC_000013.10:g.32936802G>C , CM000675.1:g.32936802G>C	GRCh37
NC_000013.9:g.31834802G>C	NCBI36
NG_012772.3:g.52186G>C , LRG_293:g.52186G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.7948G>C	ENSP00000434898.2:p.Glu2650Gln
ENST00000528762.2:c.7948G>C	ENSP00000433168.2:p.Glu2650Gln
ENST00000530893.7:c.7579G>C	ENSP00000499438.2:p.Glu2527Gln
ENST00000665585.2:c.7948G>C	ENSP00000499570.2:p.Glu2650Gln
ENST00000666593.2:c.7948G>C	ENSP00000499256.2:p.Glu2650Gln
ENST00000700202.2:c.7948G>C	ENSP00000514856.2:p.Glu2650Gln
ENST00000700202.1:c.415G>C	ENSP00000514856.1:p.Glu139Gln
ENST00000380152.8:c.7948G>C MANE Select	ENSP00000369497.3:p.Glu2650Gln
ENST00000544455.6:c.7948G>C	ENSP00000439902.1:p.Glu2650Gln
ENST00000614259.2:c.7956G>C	ENSP00000506251.1:n.7956G>C
ENST00000665585.1:c.513G>C
ENST00000680887.1:c.7948G>C	ENSP00000505508.1:p.Glu2650Gln
ENST00000380152.7:c.7948G>C	ENSP00000369497.3:p.Glu2650Gln
ENST00000544455.5:c.7948G>C	ENSP00000439902.1:p.Glu2650Gln
NM_000059.3:c.7948G>C , LRG_293t1:c.7948G>C	NP_000050.2:p.Glu2650Gln
XM_011535203.1:c.7948G>C	XP_011533505.1:p.Glu2650Gln
XM_011535204.1:c.7852G>C	XP_011533506.1:p.Glu2618Gln
XM_011535205.1:c.7948G>C	XP_011533507.1:p.Glu2650Gln
NM_000059.4:c.7948G>C MANE Select	NP_000050.3:p.Glu2650Gln