Canonical Allele Identifier: CA6941471

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 418092
• ClinVar RCV Id: RCV000536779 ; RCV000570247 ; RCV001357415 ; RCV001712440 ; RCV001797731 ; RCV003338602
• dbSNP Id: rs751250810
• ExAC: 13:32972732 A / C
• gnomAD v2: 13-32972732-A-C
• gnomAD v3: 13-32398595-A-C
• gnomAD v4: 13-32398595-A-C
• MyVariant Identifiers: chr13:g.32972732A>C (hg19) ; chr13:g.32398595A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32398595A>C , CM000675.2:g.32398595A>C	GRCh38
NC_000013.10:g.32972732A>C , CM000675.1:g.32972732A>C	GRCh37
NC_000013.9:g.31870732A>C	NCBI36
NG_012772.3:g.88116A>C , LRG_293:g.88116A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.*605A>C	ENSP00000434898.2:n.*605A>C
ENST00000528762.2:c.*1449A>C	ENSP00000433168.2:n.*1449A>C
ENST00000530893.7:c.9713A>C	ENSP00000499438.2:p.Gln3238Pro
ENST00000665585.2:c.*1644A>C	ENSP00000499570.2:n.*1644A>C
ENST00000700202.2:c.10031A>C	ENSP00000514856.2:p.Gln3344Pro
ENST00000700202.1:c.2498A>C	ENSP00000514856.1:p.Gln833Pro
ENST00000700203.1:n.2209A>C
ENST00000380152.8:c.10082A>C MANE Select	ENSP00000369497.3:p.Gln3361Pro
ENST00000544455.6:c.10082A>C	ENSP00000439902.1:p.Gln3361Pro
ENST00000614259.2:c.10090A>C	ENSP00000506251.1:n.10090A>C
ENST00000680887.1:c.10082A>C	ENSP00000505508.1:p.Gln3361Pro
ENST00000380152.7:c.10082A>C	ENSP00000369497.3:p.Gln3361Pro
ENST00000544455.5:c.10082A>C	ENSP00000439902.1:p.Gln3361Pro
NM_000059.3:c.10082A>C , LRG_293t1:c.10082A>C	NP_000050.2:p.Gln3361Pro
XM_011535203.1:c.10082A>C	XP_011533505.1:p.Gln3361Pro
XM_011535204.1:c.9986A>C	XP_011533506.1:p.Gln3329Pro
NM_000059.4:c.10082A>C MANE Select	NP_000050.3:p.Gln3361Pro