Canonical Allele Identifier: CA483271601

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 479392
• ClinVar RCV Id: RCV000564601 ; RCV000758979 ; RCV002060390
• dbSNP Id: rs1555289774
• MyVariant Identifiers: chr13:g.32971064A>G (hg19) ; chr13:g.32396927A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32396927A>G , CM000675.2:g.32396927A>G	GRCh38
NC_000013.10:g.32971064A>G , CM000675.1:g.32971064A>G	GRCh37
NC_000013.9:g.31869064A>G	NCBI36
NG_012772.3:g.86448A>G , LRG_293:g.86448A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.*54A>G	ENSP00000434898.2:n.*54A>G
ENST00000528762.2:c.*898A>G	ENSP00000433168.2:n.*898A>G
ENST00000530893.7:c.9162A>G	ENSP00000499438.2:p.Glu3054=
ENST00000665585.2:c.*1093A>G	ENSP00000499570.2:n.*1093A>G
ENST00000700202.2:c.9480A>G	ENSP00000514856.2:p.Glu3160=
ENST00000700202.1:c.1947A>G	ENSP00000514856.1:p.Glu649=
ENST00000700203.1:n.1658A>G
ENST00000380152.8:c.9531A>G MANE Select	ENSP00000369497.3:p.Glu3177=
ENST00000544455.6:c.9531A>G	ENSP00000439902.1:p.Glu3177=
ENST00000614259.2:c.9539A>G	ENSP00000506251.1:n.9539A>G
ENST00000665585.1:c.2409A>G
ENST00000680887.1:c.9531A>G	ENSP00000505508.1:p.Glu3177=
ENST00000380152.7:c.9531A>G	ENSP00000369497.3:p.Glu3177=
ENST00000470094.1:c.614A>G
ENST00000533776.1:n.119A>G
ENST00000544455.5:c.9531A>G	ENSP00000439902.1:p.Glu3177=
NM_000059.3:c.9531A>G , LRG_293t1:c.9531A>G	NP_000050.2:p.Glu3177=
XM_011535203.1:c.9531A>G	XP_011533505.1:p.Glu3177=
XM_011535204.1:c.9435A>G	XP_011533506.1:p.Glu3145=
NM_000059.4:c.9531A>G MANE Select	NP_000050.3:p.Glu3177=