Canonical Allele Identifier: CA387756284

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 441405
• ClinVar RCV Id: RCV000509993 ; RCV001005034
• dbSNP Id: rs11571769
• MyVariant Identifiers: chr13:g.32953550G>T (hg19) ; chr13:g.32379413G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32379413G>T , CM000675.2:g.32379413G>T	GRCh38
NC_000013.10:g.32953550G>T , CM000675.1:g.32953550G>T	GRCh37
NC_000013.9:g.31851550G>T	NCBI36
NG_012772.3:g.68934G>T , LRG_293:g.68934G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.8851G>T	ENSP00000434898.2:p.Ala2951Ser
ENST00000528762.2:c.*218G>T	ENSP00000433168.2:n.*218G>T
ENST00000530893.7:c.8482G>T	ENSP00000499438.2:p.Ala2828Ser
ENST00000665585.2:c.*413G>T	ENSP00000499570.2:n.*413G>T
ENST00000666593.2:c.8851G>T	ENSP00000499256.2:p.Ala2951Ser
ENST00000700202.2:c.8851G>T	ENSP00000514856.2:p.Ala2951Ser
ENST00000700202.1:c.1318G>T	ENSP00000514856.1:p.Ala440Ser
ENST00000700203.1:n.978G>T
ENST00000380152.8:c.8851G>T MANE Select	ENSP00000369497.3:p.Ala2951Ser
ENST00000544455.6:c.8851G>T	ENSP00000439902.1:p.Ala2951Ser
ENST00000614259.2:c.8859G>T	ENSP00000506251.1:n.8859G>T
ENST00000665585.1:c.1729G>T
ENST00000680887.1:c.8851G>T	ENSP00000505508.1:p.Ala2951Ser
ENST00000380152.7:c.8851G>T	ENSP00000369497.3:p.Ala2951Ser
ENST00000528762.1:c.413G>T	ENSP00000433168.1:n.413G>T
ENST00000544455.5:c.8851G>T	ENSP00000439902.1:p.Ala2951Ser
NM_000059.3:c.8851G>T , LRG_293t1:c.8851G>T	NP_000050.2:p.Ala2951Ser
XM_011535203.1:c.8851G>T	XP_011533505.1:p.Ala2951Ser
XM_011535204.1:c.8755G>T	XP_011533506.1:p.Ala2919Ser
XM_011535205.1:c.8755-337G>T	XP_011533507.1:n.8755-337G>T
NM_000059.4:c.8851G>T MANE Select	NP_000050.3:p.Ala2951Ser