Canonical Allele Identifier: CA387766069

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 653282
• ClinVar RCV Id: RCV001019786 ; RCV000809027
• dbSNP Id: rs1555289963
• MyVariant Identifiers: chr13:g.32972451G>C (hg19) ; chr13:g.32398314G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32398314G>C , CM000675.2:g.32398314G>C	GRCh38
NC_000013.10:g.32972451G>C , CM000675.1:g.32972451G>C	GRCh37
NC_000013.9:g.31870451G>C	NCBI36
NG_012772.3:g.87835G>C , LRG_293:g.87835G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.*324G>C	ENSP00000434898.2:n.*324G>C
ENST00000528762.2:c.*1168G>C	ENSP00000433168.2:n.*1168G>C
ENST00000530893.7:c.9432G>C	ENSP00000499438.2:p.Lys3144Asn
ENST00000665585.2:c.*1363G>C	ENSP00000499570.2:n.*1363G>C
ENST00000700202.2:c.9750G>C	ENSP00000514856.2:p.Lys3250Asn
ENST00000700202.1:c.2217G>C	ENSP00000514856.1:p.Lys739Asn
ENST00000700203.1:n.1928G>C
ENST00000380152.8:c.9801G>C MANE Select	ENSP00000369497.3:p.Lys3267Asn
ENST00000544455.6:c.9801G>C	ENSP00000439902.1:p.Lys3267Asn
ENST00000614259.2:c.9809G>C	ENSP00000506251.1:n.9809G>C
ENST00000680887.1:c.9801G>C	ENSP00000505508.1:p.Lys3267Asn
ENST00000380152.7:c.9801G>C	ENSP00000369497.3:p.Lys3267Asn
ENST00000533776.1:n.389G>C
ENST00000544455.5:c.9801G>C	ENSP00000439902.1:p.Lys3267Asn
NM_000059.3:c.9801G>C , LRG_293t1:c.9801G>C	NP_000050.2:p.Lys3267Asn
XM_011535203.1:c.9801G>C	XP_011533505.1:p.Lys3267Asn
XM_011535204.1:c.9705G>C	XP_011533506.1:p.Lys3235Asn
NM_000059.4:c.9801G>C MANE Select	NP_000050.3:p.Lys3267Asn