Canonical Allele Identifier: CA387765948

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 629045
• ClinVar RCV Id: RCV000773733 ; RCV001037554
• dbSNP Id: rs1566261012
• gnomAD v4: 13-32398298-A-C
• COSMIC: COSM4047105 ; COSM4047106
• MyVariant Identifiers: chr13:g.32972435A>C (hg19) ; chr13:g.32398298A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32398298A>C , CM000675.2:g.32398298A>C	GRCh38
NC_000013.10:g.32972435A>C , CM000675.1:g.32972435A>C	GRCh37
NC_000013.9:g.31870435A>C	NCBI36
NG_012772.3:g.87819A>C , LRG_293:g.87819A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.*308A>C	ENSP00000434898.2:n.*308A>C
ENST00000528762.2:c.*1152A>C	ENSP00000433168.2:n.*1152A>C
ENST00000530893.7:c.9416A>C	ENSP00000499438.2:p.Gln3139Pro
ENST00000665585.2:c.*1347A>C	ENSP00000499570.2:n.*1347A>C
ENST00000700202.2:c.9734A>C	ENSP00000514856.2:p.Gln3245Pro
ENST00000700202.1:c.2201A>C	ENSP00000514856.1:p.Gln734Pro
ENST00000700203.1:n.1912A>C
ENST00000380152.8:c.9785A>C MANE Select	ENSP00000369497.3:p.Gln3262Pro
ENST00000544455.6:c.9785A>C	ENSP00000439902.1:p.Gln3262Pro
ENST00000614259.2:c.9793A>C	ENSP00000506251.1:n.9793A>C
ENST00000680887.1:c.9785A>C	ENSP00000505508.1:p.Gln3262Pro
ENST00000380152.7:c.9785A>C	ENSP00000369497.3:p.Gln3262Pro
ENST00000533776.1:n.373A>C
ENST00000544455.5:c.9785A>C	ENSP00000439902.1:p.Gln3262Pro
NM_000059.3:c.9785A>C , LRG_293t1:c.9785A>C	NP_000050.2:p.Gln3262Pro
XM_011535203.1:c.9785A>C	XP_011533505.1:p.Gln3262Pro
XM_011535204.1:c.9689A>C	XP_011533506.1:p.Gln3230Pro
NM_000059.4:c.9785A>C MANE Select	NP_000050.3:p.Gln3262Pro