Canonical Allele Identifier: CA247483644

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 627757
• ClinVar RCV Id: RCV000771542 ; RCV000985603 ; RCV001060591 ; RCV003461024
• dbSNP Id: rs950154005
• MyVariant Identifiers: chr13:g.32944691A>G (hg19) ; chr13:g.32370554A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32370554A>G , CM000675.2:g.32370554A>G	GRCh38
NC_000013.10:g.32944691A>G , CM000675.1:g.32944691A>G	GRCh37
NC_000013.9:g.31842691A>G	NCBI36
NG_012772.3:g.60075A>G , LRG_293:g.60075A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.8484A>G	ENSP00000434898.2:p.Ile2828Met
ENST00000528762.2:c.8484A>G	ENSP00000433168.2:p.Ile2828Met
ENST00000530893.7:c.8115A>G	ENSP00000499438.2:p.Ile2705Met
ENST00000665585.2:c.8484A>G	ENSP00000499570.2:p.Ile2828Met
ENST00000666593.2:c.8484A>G	ENSP00000499256.2:p.Ile2828Met
ENST00000700202.2:c.8484A>G	ENSP00000514856.2:p.Ile2828Met
ENST00000700202.1:c.951A>G	ENSP00000514856.1:p.Ile317Met
ENST00000380152.8:c.8484A>G MANE Select	ENSP00000369497.3:p.Ile2828Met
ENST00000544455.6:c.8484A>G	ENSP00000439902.1:p.Ile2828Met
ENST00000614259.2:c.8492A>G	ENSP00000506251.1:n.8492A>G
ENST00000665585.1:c.1049A>G
ENST00000680887.1:c.8484A>G	ENSP00000505508.1:p.Ile2828Met
ENST00000380152.7:c.8484A>G	ENSP00000369497.3:p.Ile2828Met
ENST00000544455.5:c.8484A>G	ENSP00000439902.1:p.Ile2828Met
NM_000059.3:c.8484A>G , LRG_293t1:c.8484A>G	NP_000050.2:p.Ile2828Met
XM_011535203.1:c.8484A>G	XP_011533505.1:p.Ile2828Met
XM_011535204.1:c.8388A>G	XP_011533506.1:p.Ile2796Met
XM_011535205.1:c.8484A>G	XP_011533507.1:p.Ile2828Met
NM_000059.4:c.8484A>G MANE Select	NP_000050.3:p.Ile2828Met