Canonical Allele Identifier: CA387767473

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 965195
• ClinVar RCV Id: RCV001239583
• dbSNP Id: rs2073053849
• MyVariant Identifiers: chr13:g.32972623T>C (hg19) ; chr13:g.32398486T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32398486T>C , CM000675.2:g.32398486T>C	GRCh38
NC_000013.10:g.32972623T>C , CM000675.1:g.32972623T>C	GRCh37
NC_000013.9:g.31870623T>C	NCBI36
NG_012772.3:g.88007T>C , LRG_293:g.88007T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.*496T>C	ENSP00000434898.2:n.*496T>C
ENST00000528762.2:c.*1340T>C	ENSP00000433168.2:n.*1340T>C
ENST00000530893.7:c.9604T>C	ENSP00000499438.2:p.Phe3202Leu
ENST00000665585.2:c.*1535T>C	ENSP00000499570.2:n.*1535T>C
ENST00000700202.2:c.9922T>C	ENSP00000514856.2:p.Phe3308Leu
ENST00000700202.1:c.2389T>C	ENSP00000514856.1:p.Phe797Leu
ENST00000700203.1:n.2100T>C
ENST00000380152.8:c.9973T>C MANE Select	ENSP00000369497.3:p.Phe3325Leu
ENST00000544455.6:c.9973T>C	ENSP00000439902.1:p.Phe3325Leu
ENST00000614259.2:c.9981T>C	ENSP00000506251.1:n.9981T>C
ENST00000680887.1:c.9973T>C	ENSP00000505508.1:p.Phe3325Leu
ENST00000380152.7:c.9973T>C	ENSP00000369497.3:p.Phe3325Leu
ENST00000544455.5:c.9973T>C	ENSP00000439902.1:p.Phe3325Leu
NM_000059.3:c.9973T>C , LRG_293t1:c.9973T>C	NP_000050.2:p.Phe3325Leu
XM_011535203.1:c.9973T>C	XP_011533505.1:p.Phe3325Leu
XM_011535204.1:c.9877T>C	XP_011533506.1:p.Phe3293Leu
NM_000059.4:c.9973T>C MANE Select	NP_000050.3:p.Phe3325Leu