Canonical Allele Identifier: CA387766189

Gene: BRCA2

Linked Data

• dbSNP Id: rs2137664035
• MyVariant Identifiers: chr13:g.32972463G>C (hg19) ; chr13:g.32398326G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32398326G>C , CM000675.2:g.32398326G>C	GRCh38
NC_000013.10:g.32972463G>C , CM000675.1:g.32972463G>C	GRCh37
NC_000013.9:g.31870463G>C	NCBI36
NG_012772.3:g.87847G>C , LRG_293:g.87847G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.*336G>C	ENSP00000434898.2:n.*336G>C
ENST00000528762.2:c.*1180G>C	ENSP00000433168.2:n.*1180G>C
ENST00000530893.7:c.9444G>C	ENSP00000499438.2:p.Leu3148Phe
ENST00000665585.2:c.*1375G>C	ENSP00000499570.2:n.*1375G>C
ENST00000700202.2:c.9762G>C	ENSP00000514856.2:p.Leu3254Phe
ENST00000700202.1:c.2229G>C	ENSP00000514856.1:p.Leu743Phe
ENST00000700203.1:n.1940G>C
ENST00000380152.8:c.9813G>C MANE Select	ENSP00000369497.3:p.Leu3271Phe
ENST00000544455.6:c.9813G>C	ENSP00000439902.1:p.Leu3271Phe
ENST00000614259.2:c.9821G>C	ENSP00000506251.1:n.9821G>C
ENST00000680887.1:c.9813G>C	ENSP00000505508.1:p.Leu3271Phe
ENST00000380152.7:c.9813G>C	ENSP00000369497.3:p.Leu3271Phe
ENST00000533776.1:n.401G>C
ENST00000544455.5:c.9813G>C	ENSP00000439902.1:p.Leu3271Phe
NM_000059.3:c.9813G>C , LRG_293t1:c.9813G>C	NP_000050.2:p.Leu3271Phe
XM_011535203.1:c.9813G>C	XP_011533505.1:p.Leu3271Phe
XM_011535204.1:c.9717G>C	XP_011533506.1:p.Leu3239Phe
NM_000059.4:c.9813G>C MANE Select	NP_000050.3:p.Leu3271Phe