Canonical Allele Identifier: CA026085

Gene: BRCA2

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32394713C>G , CM000675.2:g.32394713C>G	GRCh38
NC_000013.10:g.32968850C>G , CM000675.1:g.32968850C>G	GRCh37
NC_000013.9:g.31866850C>G	NCBI36
NG_012772.3:g.84234C>G , LRG_293:g.84234C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000059.4:c.9281C>G MANE Select	NP_000050.3:p.Ser3094Ter
ENST00000380152.8:c.9281C>G MANE Select	ENSP00000369497.3:p.Ser3094Ter
NM_000059.3:c.9281C>G , LRG_293t1:c.9281C>G	NP_000050.2:p.Ser3094Ter
ENST00000380152.7:c.9281C>G	ENSP00000369497.3:p.Ser3094Ter
ENST00000470094.1:c.238C>G
ENST00000470094.2:c.9281C>G	ENSP00000434898.2:p.Ser3094Ter
ENST00000528762.2:c.*648C>G	ENSP00000433168.2:n.*648C>G
ENST00000530893.7:c.8912C>G	ENSP00000499438.2:p.Ser2971Ter
ENST00000544455.5:c.9281C>G	ENSP00000439902.1:p.Ser3094Ter
ENST00000544455.6:c.9281C>G	ENSP00000439902.1:p.Ser3094Ter
ENST00000614259.2:c.9289C>G	ENSP00000506251.1:n.9289C>G
ENST00000665585.1:c.2159C>G
ENST00000665585.2:c.*843C>G	ENSP00000499570.2:n.*843C>G
ENST00000666593.1:c.303C>G	ENSP00000499256.1:n.303C>G
ENST00000666593.2:c.*126C>G	ENSP00000499256.2:n.*126C>G
ENST00000680887.1:c.9281C>G	ENSP00000505508.1:p.Ser3094Ter
ENST00000700202.1:c.1697C>G	ENSP00000514856.1:p.Ser566Ter
ENST00000700202.2:c.9230C>G	ENSP00000514856.2:p.Ser3077Ter
ENST00000700203.1:n.1408C>G
XM_011535203.1:c.9281C>G	XP_011533505.1:p.Ser3094Ter
XM_011535204.1:c.9185C>G	XP_011533506.1:p.Ser3062Ter