Canonical Allele Identifier: CA387766858

Gene: BRCA2

Linked Data

• MyVariant Identifiers: chr13:g.32972542T>C (hg19) ; chr13:g.32398405T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32398405T>C , CM000675.2:g.32398405T>C	GRCh38
NC_000013.10:g.32972542T>C , CM000675.1:g.32972542T>C	GRCh37
NC_000013.9:g.31870542T>C	NCBI36
NG_012772.3:g.87926T>C , LRG_293:g.87926T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000470094.2:c.*415T>C	ENSP00000434898.2:n.*415T>C
ENST00000528762.2:c.*1259T>C	ENSP00000433168.2:n.*1259T>C
ENST00000530893.7:c.9523T>C	ENSP00000499438.2:p.Phe3175Leu
ENST00000665585.2:c.*1454T>C	ENSP00000499570.2:n.*1454T>C
ENST00000700202.2:c.9841T>C	ENSP00000514856.2:p.Phe3281Leu
ENST00000700202.1:c.2308T>C	ENSP00000514856.1:p.Phe770Leu
ENST00000700203.1:n.2019T>C
ENST00000380152.8:c.9892T>C MANE Select	ENSP00000369497.3:p.Phe3298Leu
ENST00000544455.6:c.9892T>C	ENSP00000439902.1:p.Phe3298Leu
ENST00000614259.2:c.9900T>C	ENSP00000506251.1:n.9900T>C
ENST00000680887.1:c.9892T>C	ENSP00000505508.1:p.Phe3298Leu
ENST00000380152.7:c.9892T>C	ENSP00000369497.3:p.Phe3298Leu
ENST00000533776.1:n.480T>C
ENST00000544455.5:c.9892T>C	ENSP00000439902.1:p.Phe3298Leu
NM_000059.3:c.9892T>C , LRG_293t1:c.9892T>C	NP_000050.2:p.Phe3298Leu
XM_011535203.1:c.9892T>C	XP_011533505.1:p.Phe3298Leu
XM_011535204.1:c.9796T>C	XP_011533506.1:p.Phe3266Leu
NM_000059.4:c.9892T>C MANE Select	NP_000050.3:p.Phe3298Leu