Canonical Allele Identifier: CA387761182

Gene: BRCA2

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32394800G>A , CM000675.2:g.32394800G>A	GRCh38
NC_000013.10:g.32968937G>A , CM000675.1:g.32968937G>A	GRCh37
NC_000013.9:g.31866937G>A	NCBI36
NG_012772.3:g.84321G>A , LRG_293:g.84321G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000059.4:c.9368G>A MANE Select	NP_000050.3:p.Ser3123Asn
ENST00000380152.8:c.9368G>A MANE Select	ENSP00000369497.3:p.Ser3123Asn
NM_000059.3:c.9368G>A , LRG_293t1:c.9368G>A	NP_000050.2:p.Ser3123Asn
ENST00000380152.7:c.9368G>A	ENSP00000369497.3:p.Ser3123Asn
ENST00000470094.1:c.325G>A
ENST00000470094.2:c.9368G>A	ENSP00000434898.2:p.Ser3123Asn
ENST00000528762.2:c.*735G>A	ENSP00000433168.2:n.*735G>A
ENST00000530893.7:c.8999G>A	ENSP00000499438.2:p.Ser3000Asn
ENST00000544455.5:c.9368G>A	ENSP00000439902.1:p.Ser3123Asn
ENST00000544455.6:c.9368G>A	ENSP00000439902.1:p.Ser3123Asn
ENST00000614259.2:c.9376G>A	ENSP00000506251.1:n.9376G>A
ENST00000665585.1:c.2246G>A
ENST00000665585.2:c.*930G>A	ENSP00000499570.2:n.*930G>A
ENST00000666593.1:c.390G>A	ENSP00000499256.1:n.390G>A
ENST00000666593.2:c.*213G>A	ENSP00000499256.2:n.*213G>A
ENST00000680887.1:c.9368G>A	ENSP00000505508.1:p.Ser3123Asn
ENST00000700202.1:c.1784G>A	ENSP00000514856.1:p.Ser595Asn
ENST00000700202.2:c.9317G>A	ENSP00000514856.2:p.Ser3106Asn
ENST00000700203.1:n.1495G>A
XM_011535203.1:c.9368G>A	XP_011533505.1:p.Ser3123Asn
XM_011535204.1:c.9272G>A	XP_011533506.1:p.Ser3091Asn