Canonical Allele Identifier: CA387757739

Gene: BRCA2

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32379907A>C , CM000675.2:g.32379907A>C	GRCh38
NC_000013.10:g.32954044A>C , CM000675.1:g.32954044A>C	GRCh37
NC_000013.9:g.31852044A>C	NCBI36
NG_012772.3:g.69428A>C , LRG_293:g.69428A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000059.4:c.9111A>C MANE Select	NP_000050.3:p.Gln3037His
ENST00000380152.8:c.9111A>C MANE Select	ENSP00000369497.3:p.Gln3037His
NM_000059.3:c.9111A>C , LRG_293t1:c.9111A>C	NP_000050.2:p.Gln3037His
ENST00000380152.7:c.9111A>C	ENSP00000369497.3:p.Gln3037His
ENST00000470094.1:c.68A>C
ENST00000470094.2:c.9111A>C	ENSP00000434898.2:p.Gln3037His
ENST00000528762.2:c.*478A>C	ENSP00000433168.2:n.*478A>C
ENST00000530893.7:c.8742A>C	ENSP00000499438.2:p.Gln2914His
ENST00000544455.5:c.9111A>C	ENSP00000439902.1:p.Gln3037His
ENST00000544455.6:c.9111A>C	ENSP00000439902.1:p.Gln3037His
ENST00000614259.2:c.9119A>C	ENSP00000506251.1:n.9119A>C
ENST00000665585.1:c.1989A>C
ENST00000665585.2:c.*673A>C	ENSP00000499570.2:n.*673A>C
ENST00000666593.2:c.9111A>C	ENSP00000499256.2:p.Gln3037His
ENST00000680887.1:c.9111A>C	ENSP00000505508.1:p.Gln3037His
ENST00000700202.1:c.1527A>C	ENSP00000514856.1:p.Gln509His
ENST00000700202.2:c.9060A>C	ENSP00000514856.2:p.Gln3020His
ENST00000700203.1:n.1238A>C
XM_011535203.1:c.9111A>C	XP_011533505.1:p.Gln3037His
XM_011535204.1:c.9015A>C	XP_011533506.1:p.Gln3005His