Canonical Allele Identifier: CA387765313

Gene: BRCA2

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32398205C>A , CM000675.2:g.32398205C>A	GRCh38
NC_000013.10:g.32972342C>A , CM000675.1:g.32972342C>A	GRCh37
NC_000013.9:g.31870342C>A	NCBI36
NG_012772.3:g.87726C>A , LRG_293:g.87726C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000059.4:c.9692C>A MANE Select	NP_000050.3:p.Ser3231Ter
ENST00000380152.8:c.9692C>A MANE Select	ENSP00000369497.3:p.Ser3231Ter
NM_000059.3:c.9692C>A , LRG_293t1:c.9692C>A	NP_000050.2:p.Ser3231Ter
ENST00000380152.7:c.9692C>A	ENSP00000369497.3:p.Ser3231Ter
ENST00000470094.1:c.775C>A
ENST00000470094.2:c.*215C>A	ENSP00000434898.2:n.*215C>A
ENST00000528762.2:c.*1059C>A	ENSP00000433168.2:n.*1059C>A
ENST00000530893.7:c.9323C>A	ENSP00000499438.2:p.Ser3108Ter
ENST00000533776.1:n.280C>A
ENST00000544455.5:c.9692C>A	ENSP00000439902.1:p.Ser3231Ter
ENST00000544455.6:c.9692C>A	ENSP00000439902.1:p.Ser3231Ter
ENST00000614259.2:c.9700C>A	ENSP00000506251.1:n.9700C>A
ENST00000665585.1:c.2570C>A
ENST00000665585.2:c.*1254C>A	ENSP00000499570.2:n.*1254C>A
ENST00000680887.1:c.9692C>A	ENSP00000505508.1:p.Ser3231Ter
ENST00000700202.1:c.2108C>A	ENSP00000514856.1:p.Ser703Ter
ENST00000700202.2:c.9641C>A	ENSP00000514856.2:p.Ser3214Ter
ENST00000700203.1:n.1819C>A
XM_011535203.1:c.9692C>A	XP_011533505.1:p.Ser3231Ter
XM_011535204.1:c.9596C>A	XP_011533506.1:p.Ser3199Ter