Canonical Allele Identifier: CA16606823

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 392268
• ClinVar RCV Id: RCV000430153 ; RCV000584263 ; RCV004539911 ; RCV002060084
• dbSNP Id: rs1057524419
• gnomAD v4: 13-32370425-T-C
• MyVariant Identifiers: chr13:g.32944562T>C (hg19) ; chr13:g.32370425T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32370425T>C , CM000675.2:g.32370425T>C	GRCh38
NC_000013.10:g.32944562T>C , CM000675.1:g.32944562T>C	GRCh37
NC_000013.9:g.31842562T>C	NCBI36
NG_012772.3:g.59946T>C , LRG_293:g.59946T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.8355T>C	ENSP00000434898.2:p.Pro2785=
ENST00000528762.2:c.8355T>C	ENSP00000433168.2:p.Pro2785=
ENST00000530893.7:c.7986T>C	ENSP00000499438.2:p.Pro2662=
ENST00000665585.2:c.8355T>C	ENSP00000499570.2:p.Pro2785=
ENST00000666593.2:c.8355T>C	ENSP00000499256.2:p.Pro2785=
ENST00000700202.2:c.8355T>C	ENSP00000514856.2:p.Pro2785=
ENST00000700202.1:c.822T>C	ENSP00000514856.1:p.Pro274=
ENST00000380152.8:c.8355T>C MANE Select	ENSP00000369497.3:p.Pro2785=
ENST00000544455.6:c.8355T>C	ENSP00000439902.1:p.Pro2785=
ENST00000614259.2:c.8363T>C	ENSP00000506251.1:n.8363T>C
ENST00000665585.1:c.920T>C
ENST00000680887.1:c.8355T>C	ENSP00000505508.1:p.Pro2785=
ENST00000380152.7:c.8355T>C	ENSP00000369497.3:p.Pro2785=
ENST00000544455.5:c.8355T>C	ENSP00000439902.1:p.Pro2785=
NM_000059.3:c.8355T>C , LRG_293t1:c.8355T>C	NP_000050.2:p.Pro2785=
XM_011535203.1:c.8355T>C	XP_011533505.1:p.Pro2785=
XM_011535204.1:c.8259T>C	XP_011533506.1:p.Pro2753=
XM_011535205.1:c.8355T>C	XP_011533507.1:p.Pro2785=
NM_000059.4:c.8355T>C MANE Select	NP_000050.3:p.Pro2785=