Canonical Allele Identifier: CA483261529

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 1080979
• ClinVar RCV Id: RCV001396815
• dbSNP Id: rs2137600634
• MyVariant Identifiers: chr13:g.32945182A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32371045A>G , CM000675.2:g.32371045A>G	GRCh38
NC_000013.10:g.32945182A>G , CM000675.1:g.32945182A>G	GRCh37
NC_000013.9:g.31843182A>G	NCBI36
NG_012772.3:g.60566A>G , LRG_293:g.60566A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.8577A>G	ENSP00000434898.2:p.Gln2859=
ENST00000528762.2:c.8577A>G	ENSP00000433168.2:p.Gln2859=
ENST00000530893.7:c.8208A>G	ENSP00000499438.2:p.Gln2736=
ENST00000665585.2:c.8577A>G	ENSP00000499570.2:p.Gln2859=
ENST00000666593.2:c.8577A>G	ENSP00000499256.2:p.Gln2859=
ENST00000700202.2:c.8577A>G	ENSP00000514856.2:p.Gln2859=
ENST00000700202.1:c.1044A>G	ENSP00000514856.1:p.Gln348=
ENST00000380152.8:c.8577A>G MANE Select	ENSP00000369497.3:p.Gln2859=
ENST00000544455.6:c.8577A>G	ENSP00000439902.1:p.Gln2859=
ENST00000614259.2:c.8585A>G	ENSP00000506251.1:n.8585A>G
ENST00000665585.1:c.1142A>G
ENST00000680887.1:c.8577A>G	ENSP00000505508.1:p.Gln2859=
ENST00000380152.7:c.8577A>G	ENSP00000369497.3:p.Gln2859=
ENST00000528762.1:c.75A>G	ENSP00000433168.1:p.Gln25=
ENST00000544455.5:c.8577A>G	ENSP00000439902.1:p.Gln2859=
NM_000059.3:c.8577A>G , LRG_293t1:c.8577A>G	NP_000050.2:p.Gln2859=
XM_011535203.1:c.8577A>G	XP_011533505.1:p.Gln2859=
XM_011535204.1:c.8481A>G	XP_011533506.1:p.Gln2827=
XM_011535205.1:c.8577A>G	XP_011533507.1:p.Gln2859=
NM_000059.4:c.8577A>G MANE Select	NP_000050.3:p.Gln2859=