Canonical Allele Identifier: CA387780645

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 495463
• ClinVar RCV Id: RCV000588421 ; RCV001022215 ; RCV002530889
• dbSNP Id: rs1555283691
• MyVariant Identifiers: chr13:g.32912780A>G (hg19) ; chr13:g.32338643A>G (hg38)
• PubMed: PMID:11239456 ; PMID:15937124

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32338643A>G , CM000675.2:g.32338643A>G	GRCh38
NC_000013.10:g.32912780A>G , CM000675.1:g.32912780A>G	GRCh37
NC_000013.9:g.31810780A>G	NCBI36
NG_012772.3:g.28164A>G , LRG_293:g.28164A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.4288A>G	ENSP00000434898.2:p.Thr1430Ala
ENST00000528762.2:c.4288A>G	ENSP00000433168.2:p.Thr1430Ala
ENST00000530893.7:c.3919A>G	ENSP00000499438.2:p.Thr1307Ala
ENST00000665585.2:c.4288A>G	ENSP00000499570.2:p.Thr1430Ala
ENST00000666593.2:c.4288A>G	ENSP00000499256.2:p.Thr1430Ala
ENST00000700202.2:c.4288A>G	ENSP00000514856.2:p.Thr1430Ala
ENST00000380152.8:c.4288A>G MANE Select	ENSP00000369497.3:p.Thr1430Ala
ENST00000544455.6:c.4288A>G	ENSP00000439902.1:p.Thr1430Ala
ENST00000614259.2:c.4288A>G	ENSP00000506251.1:p.Thr1430Ala
ENST00000680887.1:c.4288A>G	ENSP00000505508.1:p.Thr1430Ala
ENST00000380152.7:c.4288A>G	ENSP00000369497.3:p.Thr1430Ala
ENST00000544455.5:c.4288A>G	ENSP00000439902.1:p.Thr1430Ala
ENST00000614259.1:n.4288A>G
NM_000059.3:c.4288A>G , LRG_293t1:c.4288A>G	NP_000050.2:p.Thr1430Ala
XM_011535203.1:c.4288A>G	XP_011533505.1:p.Thr1430Ala
XM_011535204.1:c.4288A>G	XP_011533506.1:p.Thr1430Ala
XM_011535205.1:c.4288A>G	XP_011533507.1:p.Thr1430Ala
NM_000059.4:c.4288A>G MANE Select	NP_000050.3:p.Thr1430Ala