Canonical Allele Identifier: CA6941450

Gene: BRCA2

Linked Data

• dbSNP Id: rs747850861
• ExAC: 13:32972519 T / C
• gnomAD v2: 13-32972519-T-C
• gnomAD v3: 13-32398382-T-C
• gnomAD v4: 13-32398382-T-C
• MyVariant Identifiers: chr13:g.32972519T>C (hg19) ; chr13:g.32398382T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32398382T>C , CM000675.2:g.32398382T>C	GRCh38
NC_000013.10:g.32972519T>C , CM000675.1:g.32972519T>C	GRCh37
NC_000013.9:g.31870519T>C	NCBI36
NG_012772.3:g.87903T>C , LRG_293:g.87903T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.*392T>C	ENSP00000434898.2:n.*392T>C
ENST00000528762.2:c.*1236T>C	ENSP00000433168.2:n.*1236T>C
ENST00000530893.7:c.9500T>C	ENSP00000499438.2:p.Val3167Ala
ENST00000665585.2:c.*1431T>C	ENSP00000499570.2:n.*1431T>C
ENST00000700202.2:c.9818T>C	ENSP00000514856.2:p.Val3273Ala
ENST00000700202.1:c.2285T>C	ENSP00000514856.1:p.Val762Ala
ENST00000700203.1:n.1996T>C
ENST00000380152.8:c.9869T>C MANE Select	ENSP00000369497.3:p.Val3290Ala
ENST00000544455.6:c.9869T>C	ENSP00000439902.1:p.Val3290Ala
ENST00000614259.2:c.9877T>C	ENSP00000506251.1:n.9877T>C
ENST00000680887.1:c.9869T>C	ENSP00000505508.1:p.Val3290Ala
ENST00000380152.7:c.9869T>C	ENSP00000369497.3:p.Val3290Ala
ENST00000533776.1:n.457T>C
ENST00000544455.5:c.9869T>C	ENSP00000439902.1:p.Val3290Ala
NM_000059.3:c.9869T>C , LRG_293t1:c.9869T>C	NP_000050.2:p.Val3290Ala
XM_011535203.1:c.9869T>C	XP_011533505.1:p.Val3290Ala
XM_011535204.1:c.9773T>C	XP_011533506.1:p.Val3258Ala
NM_000059.4:c.9869T>C MANE Select	NP_000050.3:p.Val3290Ala