Canonical Allele Identifier: CA387765534

Gene: BRCA2

Linked Data

• MyVariant Identifiers: chr13:g.32972384C>A (hg19) ; chr13:g.32398247C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32398247C>A , CM000675.2:g.32398247C>A	GRCh38
NC_000013.10:g.32972384C>A , CM000675.1:g.32972384C>A	GRCh37
NC_000013.9:g.31870384C>A	NCBI36
NG_012772.3:g.87768C>A , LRG_293:g.87768C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.*257C>A	ENSP00000434898.2:n.*257C>A
ENST00000528762.2:c.*1101C>A	ENSP00000433168.2:n.*1101C>A
ENST00000530893.7:c.9365C>A	ENSP00000499438.2:p.Ser3122Ter
ENST00000665585.2:c.*1296C>A	ENSP00000499570.2:n.*1296C>A
ENST00000700202.2:c.9683C>A	ENSP00000514856.2:p.Ser3228Ter
ENST00000700202.1:c.2150C>A	ENSP00000514856.1:p.Ser717Ter
ENST00000700203.1:n.1861C>A
ENST00000380152.8:c.9734C>A MANE Select	ENSP00000369497.3:p.Ser3245Ter
ENST00000544455.6:c.9734C>A	ENSP00000439902.1:p.Ser3245Ter
ENST00000614259.2:c.9742C>A	ENSP00000506251.1:n.9742C>A
ENST00000680887.1:c.9734C>A	ENSP00000505508.1:p.Ser3245Ter
ENST00000380152.7:c.9734C>A	ENSP00000369497.3:p.Ser3245Ter
ENST00000470094.1:c.817C>A
ENST00000533776.1:n.322C>A
ENST00000544455.5:c.9734C>A	ENSP00000439902.1:p.Ser3245Ter
NM_000059.3:c.9734C>A , LRG_293t1:c.9734C>A	NP_000050.2:p.Ser3245Ter
XM_011535203.1:c.9734C>A	XP_011533505.1:p.Ser3245Ter
XM_011535204.1:c.9638C>A	XP_011533506.1:p.Ser3213Ter
NM_000059.4:c.9734C>A MANE Select	NP_000050.3:p.Ser3245Ter