Canonical Allele Identifier: CA387757834

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 2094275
• ClinVar RCV Id: RCV003475466 ; RCV003308423 ; RCV003021258
• MyVariant Identifiers: chr13:g.32954161A>T (hg19) ; chr13:g.32380024A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32380024A>T , CM000675.2:g.32380024A>T	GRCh38
NC_000013.10:g.32954161A>T , CM000675.1:g.32954161A>T	GRCh37
NC_000013.9:g.31852161A>T	NCBI36
NG_012772.3:g.69545A>T , LRG_293:g.69545A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.9135A>T	ENSP00000434898.2:p.Leu3045Phe
ENST00000528762.2:c.*502A>T	ENSP00000433168.2:n.*502A>T
ENST00000530893.7:c.8766A>T	ENSP00000499438.2:p.Leu2922Phe
ENST00000665585.2:c.*697A>T	ENSP00000499570.2:n.*697A>T
ENST00000666593.2:c.9135A>T	ENSP00000499256.2:p.Leu3045Phe
ENST00000700202.2:c.9084A>T	ENSP00000514856.2:p.Leu3028Phe
ENST00000700202.1:c.1551A>T	ENSP00000514856.1:p.Leu517Phe
ENST00000700203.1:n.1262A>T
ENST00000380152.8:c.9135A>T MANE Select	ENSP00000369497.3:p.Leu3045Phe
ENST00000544455.6:c.9135A>T	ENSP00000439902.1:p.Leu3045Phe
ENST00000614259.2:c.9143A>T	ENSP00000506251.1:n.9143A>T
ENST00000665585.1:c.2013A>T
ENST00000666593.1:c.18A>T	ENSP00000499256.1:p.Leu6Phe
ENST00000680887.1:c.9135A>T	ENSP00000505508.1:p.Leu3045Phe
ENST00000380152.7:c.9135A>T	ENSP00000369497.3:p.Leu3045Phe
ENST00000470094.1:c.92A>T
ENST00000544455.5:c.9135A>T	ENSP00000439902.1:p.Leu3045Phe
NM_000059.3:c.9135A>T , LRG_293t1:c.9135A>T	NP_000050.2:p.Leu3045Phe
XM_011535203.1:c.9135A>T	XP_011533505.1:p.Leu3045Phe
XM_011535204.1:c.9039A>T	XP_011533506.1:p.Leu3013Phe
NM_000059.4:c.9135A>T MANE Select	NP_000050.3:p.Leu3045Phe