Canonical Allele Identifier: CA387757838

Gene: BRCA2

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32380025T>C , CM000675.2:g.32380025T>C	GRCh38
NC_000013.10:g.32954162T>C , CM000675.1:g.32954162T>C	GRCh37
NC_000013.9:g.31852162T>C	NCBI36
NG_012772.3:g.69546T>C , LRG_293:g.69546T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000059.4:c.9136T>C MANE Select	NP_000050.3:p.Phe3046Leu
ENST00000380152.8:c.9136T>C MANE Select	ENSP00000369497.3:p.Phe3046Leu
NM_000059.3:c.9136T>C , LRG_293t1:c.9136T>C	NP_000050.2:p.Phe3046Leu
ENST00000380152.7:c.9136T>C	ENSP00000369497.3:p.Phe3046Leu
ENST00000470094.1:c.93T>C
ENST00000470094.2:c.9136T>C	ENSP00000434898.2:p.Phe3046Leu
ENST00000528762.2:c.*503T>C	ENSP00000433168.2:n.*503T>C
ENST00000530893.7:c.8767T>C	ENSP00000499438.2:p.Phe2923Leu
ENST00000544455.5:c.9136T>C	ENSP00000439902.1:p.Phe3046Leu
ENST00000544455.6:c.9136T>C	ENSP00000439902.1:p.Phe3046Leu
ENST00000614259.2:c.9144T>C	ENSP00000506251.1:n.9144T>C
ENST00000665585.1:c.2014T>C
ENST00000665585.2:c.*698T>C	ENSP00000499570.2:n.*698T>C
ENST00000666593.1:c.19T>C	ENSP00000499256.1:p.Phe7Leu
ENST00000666593.2:c.9136T>C	ENSP00000499256.2:p.Phe3046Leu
ENST00000680887.1:c.9136T>C	ENSP00000505508.1:p.Phe3046Leu
ENST00000700202.1:c.1552T>C	ENSP00000514856.1:p.Phe518Leu
ENST00000700202.2:c.9085T>C	ENSP00000514856.2:p.Phe3029Leu
ENST00000700203.1:n.1263T>C
XM_011535203.1:c.9136T>C	XP_011533505.1:p.Phe3046Leu
XM_011535204.1:c.9040T>C	XP_011533506.1:p.Phe3014Leu