Canonical Allele Identifier: CA6941480

Gene: BRCA2

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32398712G>A , CM000675.2:g.32398712G>A	GRCh38
NC_000013.10:g.32972849G>A , CM000675.1:g.32972849G>A	GRCh37
NC_000013.9:g.31870849G>A	NCBI36
NG_012772.3:g.88233G>A , LRG_293:g.88233G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000059.4:c.10199G>A MANE Select	NP_000050.3:p.Ser3400Asn
ENST00000380152.8:c.10199G>A MANE Select	ENSP00000369497.3:p.Ser3400Asn
NM_000059.3:c.10199G>A , LRG_293t1:c.10199G>A	NP_000050.2:p.Ser3400Asn
ENST00000380152.7:c.10199G>A	ENSP00000369497.3:p.Ser3400Asn
ENST00000470094.2:c.*722G>A	ENSP00000434898.2:n.*722G>A
ENST00000528762.2:c.*1566G>A	ENSP00000433168.2:n.*1566G>A
ENST00000530893.7:c.9830G>A	ENSP00000499438.2:p.Ser3277Asn
ENST00000544455.5:c.10199G>A	ENSP00000439902.1:p.Ser3400Asn
ENST00000544455.6:c.10199G>A	ENSP00000439902.1:p.Ser3400Asn
ENST00000614259.2:c.10207G>A	ENSP00000506251.1:n.10207G>A
ENST00000665585.2:c.*1761G>A	ENSP00000499570.2:n.*1761G>A
ENST00000680887.1:c.10199G>A	ENSP00000505508.1:p.Ser3400Asn
ENST00000700202.1:c.2615G>A	ENSP00000514856.1:p.Ser872Asn
ENST00000700202.2:c.10148G>A	ENSP00000514856.2:p.Ser3383Asn
ENST00000700203.1:n.2326G>A
XM_011535203.1:c.10199G>A	XP_011533505.1:p.Ser3400Asn
XM_011535204.1:c.10103G>A	XP_011533506.1:p.Ser3368Asn