Canonical Allele Identifier: CA387767937

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 938904
• ClinVar RCV Id: RCV001208206
• dbSNP Id: rs1593202272
• MyVariant Identifiers: chr13:g.32972733A>C (hg19) ; chr13:g.32398596A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32398596A>C , CM000675.2:g.32398596A>C	GRCh38
NC_000013.10:g.32972733A>C , CM000675.1:g.32972733A>C	GRCh37
NC_000013.9:g.31870733A>C	NCBI36
NG_012772.3:g.88117A>C , LRG_293:g.88117A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.*606A>C	ENSP00000434898.2:n.*606A>C
ENST00000528762.2:c.*1450A>C	ENSP00000433168.2:n.*1450A>C
ENST00000530893.7:c.9714A>C	ENSP00000499438.2:p.Gln3238His
ENST00000665585.2:c.*1645A>C	ENSP00000499570.2:n.*1645A>C
ENST00000700202.2:c.10032A>C	ENSP00000514856.2:p.Gln3344His
ENST00000700202.1:c.2499A>C	ENSP00000514856.1:p.Gln833His
ENST00000700203.1:n.2210A>C
ENST00000380152.8:c.10083A>C MANE Select	ENSP00000369497.3:p.Gln3361His
ENST00000544455.6:c.10083A>C	ENSP00000439902.1:p.Gln3361His
ENST00000614259.2:c.10091A>C	ENSP00000506251.1:n.10091A>C
ENST00000680887.1:c.10083A>C	ENSP00000505508.1:p.Gln3361His
ENST00000380152.7:c.10083A>C	ENSP00000369497.3:p.Gln3361His
ENST00000544455.5:c.10083A>C	ENSP00000439902.1:p.Gln3361His
NM_000059.3:c.10083A>C , LRG_293t1:c.10083A>C	NP_000050.2:p.Gln3361His
XM_011535203.1:c.10083A>C	XP_011533505.1:p.Gln3361His
XM_011535204.1:c.9987A>C	XP_011533506.1:p.Gln3329His
NM_000059.4:c.10083A>C MANE Select	NP_000050.3:p.Gln3361His