Canonical Allele Identifier: CA026257

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 186499
• ClinVar RCV Id: RCV000166101 ; RCV000527255 ; RCV003477624
• dbSNP Id: rs786203000
• gnomAD v4: 13-32398162-A-C
• MyVariant Identifiers: chr13:g.32972299A>C (hg19) ; chr13:g.32398162A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32398162A>C , CM000675.2:g.32398162A>C	GRCh38
NC_000013.10:g.32972299A>C , CM000675.1:g.32972299A>C	GRCh37
NC_000013.9:g.31870299A>C	NCBI36
NG_012772.3:g.87683A>C , LRG_293:g.87683A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.*172A>C	ENSP00000434898.2:n.*172A>C
ENST00000528762.2:c.*1016A>C	ENSP00000433168.2:n.*1016A>C
ENST00000530893.7:c.9280A>C	ENSP00000499438.2:p.Met3094Leu
ENST00000665585.2:c.*1211A>C	ENSP00000499570.2:n.*1211A>C
ENST00000700202.2:c.9598A>C	ENSP00000514856.2:p.Met3200Leu
ENST00000700202.1:c.2065A>C	ENSP00000514856.1:p.Met689Leu
ENST00000700203.1:n.1776A>C
ENST00000380152.8:c.9649A>C MANE Select	ENSP00000369497.3:p.Met3217Leu
ENST00000544455.6:c.9649A>C	ENSP00000439902.1:p.Met3217Leu
ENST00000614259.2:c.9657A>C	ENSP00000506251.1:n.9657A>C
ENST00000665585.1:c.2527A>C
ENST00000680887.1:c.9649A>C	ENSP00000505508.1:p.Met3217Leu
ENST00000380152.7:c.9649A>C	ENSP00000369497.3:p.Met3217Leu
ENST00000470094.1:c.732A>C
ENST00000533776.1:n.237A>C
ENST00000544455.5:c.9649A>C	ENSP00000439902.1:p.Met3217Leu
NM_000059.3:c.9649A>C , LRG_293t1:c.9649A>C	NP_000050.2:p.Met3217Leu
XM_011535203.1:c.9649A>C	XP_011533505.1:p.Met3217Leu
XM_011535204.1:c.9553A>C	XP_011533506.1:p.Met3185Leu
NM_000059.4:c.9649A>C MANE Select	NP_000050.3:p.Met3217Leu