Canonical Allele Identifier: CA387757247

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 1363158
• ClinVar RCV Id: RCV001902100 ; RCV003299064
• dbSNP Id: rs2137620350
• gnomAD v4: 13-32379468-T-C
• MyVariant Identifiers: chr13:g.32953605T>C (hg19) ; chr13:g.32379468T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32379468T>C , CM000675.2:g.32379468T>C	GRCh38
NC_000013.10:g.32953605T>C , CM000675.1:g.32953605T>C	GRCh37
NC_000013.9:g.31851605T>C	NCBI36
NG_012772.3:g.68989T>C , LRG_293:g.68989T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.8906T>C	ENSP00000434898.2:p.Val2969Ala
ENST00000528762.2:c.*273T>C	ENSP00000433168.2:n.*273T>C
ENST00000530893.7:c.8537T>C	ENSP00000499438.2:p.Val2846Ala
ENST00000665585.2:c.*468T>C	ENSP00000499570.2:n.*468T>C
ENST00000666593.2:c.8906T>C	ENSP00000499256.2:p.Val2969Ala
ENST00000700202.2:c.8906T>C	ENSP00000514856.2:p.Val2969Ala
ENST00000700202.1:c.1373T>C	ENSP00000514856.1:p.Val458Ala
ENST00000700203.1:n.1033T>C
ENST00000380152.8:c.8906T>C MANE Select	ENSP00000369497.3:p.Val2969Ala
ENST00000544455.6:c.8906T>C	ENSP00000439902.1:p.Val2969Ala
ENST00000614259.2:c.8914T>C	ENSP00000506251.1:n.8914T>C
ENST00000665585.1:c.1784T>C
ENST00000680887.1:c.8906T>C	ENSP00000505508.1:p.Val2969Ala
ENST00000380152.7:c.8906T>C	ENSP00000369497.3:p.Val2969Ala
ENST00000528762.1:c.468T>C	ENSP00000433168.1:n.468T>C
ENST00000544455.5:c.8906T>C	ENSP00000439902.1:p.Val2969Ala
NM_000059.3:c.8906T>C , LRG_293t1:c.8906T>C	NP_000050.2:p.Val2969Ala
XM_011535203.1:c.8906T>C	XP_011533505.1:p.Val2969Ala
XM_011535204.1:c.8810T>C	XP_011533506.1:p.Val2937Ala
XM_011535205.1:c.8755-282T>C	XP_011533507.1:n.8755-282T>C
NM_000059.4:c.8906T>C MANE Select	NP_000050.3:p.Val2969Ala