Canonical Allele Identifier: CA387757414

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 926416
• ClinVar RCV Id: RCV001189011 ; RCV004010326
• dbSNP Id: rs1593937365
• MyVariant Identifiers: chr13:g.32953917A>C (hg19) ; chr13:g.32379780A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32379780A>C , CM000675.2:g.32379780A>C	GRCh38
NC_000013.10:g.32953917A>C , CM000675.1:g.32953917A>C	GRCh37
NC_000013.9:g.31851917A>C	NCBI36
NG_012772.3:g.69301A>C , LRG_293:g.69301A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.8984A>C	ENSP00000434898.2:p.Asp2995Ala
ENST00000528762.2:c.*351A>C	ENSP00000433168.2:n.*351A>C
ENST00000530893.7:c.8615A>C	ENSP00000499438.2:p.Asp2872Ala
ENST00000665585.2:c.*546A>C	ENSP00000499570.2:n.*546A>C
ENST00000666593.2:c.8984A>C	ENSP00000499256.2:p.Asp2995Ala
ENST00000700202.2:c.8954-21A>C	ENSP00000514856.2:n.8954-21A>C
ENST00000700202.1:c.1421-21A>C	ENSP00000514856.1:n.1421-21A>C
ENST00000700203.1:n.1111A>C
ENST00000380152.8:c.8984A>C MANE Select	ENSP00000369497.3:p.Asp2995Ala
ENST00000544455.6:c.8984A>C	ENSP00000439902.1:p.Asp2995Ala
ENST00000614259.2:c.8992A>C	ENSP00000506251.1:n.8992A>C
ENST00000665585.1:c.1862A>C
ENST00000680887.1:c.8984A>C	ENSP00000505508.1:p.Asp2995Ala
ENST00000380152.7:c.8984A>C	ENSP00000369497.3:p.Asp2995Ala
ENST00000544455.5:c.8984A>C	ENSP00000439902.1:p.Asp2995Ala
NM_000059.3:c.8984A>C , LRG_293t1:c.8984A>C	NP_000050.2:p.Asp2995Ala
XM_011535203.1:c.8984A>C	XP_011533505.1:p.Asp2995Ala
XM_011535204.1:c.8888A>C	XP_011533506.1:p.Asp2963Ala
XM_011535205.1:c.*22A>C	XP_011533507.1:n.*22A>C
NM_000059.4:c.8984A>C MANE Select	NP_000050.3:p.Asp2995Ala