Canonical Allele Identifier: CA16614030

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 409563
• ClinVar RCV Id: RCV000472420 ; RCV001188080
• dbSNP Id: rs1060502468
• MyVariant Identifiers: chr13:g.32972700A>C (hg19) ; chr13:g.32398563A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32398563A>C , CM000675.2:g.32398563A>C	GRCh38
NC_000013.10:g.32972700A>C , CM000675.1:g.32972700A>C	GRCh37
NC_000013.9:g.31870700A>C	NCBI36
NG_012772.3:g.88084A>C , LRG_293:g.88084A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000470094.2:c.*573A>C	ENSP00000434898.2:n.*573A>C
ENST00000528762.2:c.*1417A>C	ENSP00000433168.2:n.*1417A>C
ENST00000530893.7:c.9681A>C	ENSP00000499438.2:p.Gln3227His
ENST00000665585.2:c.*1612A>C	ENSP00000499570.2:n.*1612A>C
ENST00000700202.2:c.9999A>C	ENSP00000514856.2:p.Gln3333His
ENST00000700202.1:c.2466A>C	ENSP00000514856.1:p.Gln822His
ENST00000700203.1:n.2177A>C
ENST00000380152.8:c.10050A>C MANE Select	ENSP00000369497.3:p.Gln3350His
ENST00000544455.6:c.10050A>C	ENSP00000439902.1:p.Gln3350His
ENST00000614259.2:c.10058A>C	ENSP00000506251.1:n.10058A>C
ENST00000680887.1:c.10050A>C	ENSP00000505508.1:p.Gln3350His
ENST00000380152.7:c.10050A>C	ENSP00000369497.3:p.Gln3350His
ENST00000544455.5:c.10050A>C	ENSP00000439902.1:p.Gln3350His
NM_000059.3:c.10050A>C , LRG_293t1:c.10050A>C	NP_000050.2:p.Gln3350His
XM_011535203.1:c.10050A>C	XP_011533505.1:p.Gln3350His
XM_011535204.1:c.9954A>C	XP_011533506.1:p.Gln3318His
NM_000059.4:c.10050A>C MANE Select	NP_000050.3:p.Gln3350His