Canonical Allele Identifier: CA16619784

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 419170
• ClinVar RCV Id: RCV000485068 ; RCV000580144 ; RCV000801790 ; RCV003234776 ; RCV003607290
• dbSNP Id: rs1064793691
• gnomAD v4: 13-32379406-T-G
• MyVariant Identifiers: chr13:g.32953543T>G (hg19) ; chr13:g.32379406T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32379406T>G , CM000675.2:g.32379406T>G	GRCh38
NC_000013.10:g.32953543T>G , CM000675.1:g.32953543T>G	GRCh37
NC_000013.9:g.31851543T>G	NCBI36
NG_012772.3:g.68927T>G , LRG_293:g.68927T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.8844T>G	ENSP00000434898.2:p.Ile2948Met
ENST00000528762.2:c.*211T>G	ENSP00000433168.2:n.*211T>G
ENST00000530893.7:c.8475T>G	ENSP00000499438.2:p.Ile2825Met
ENST00000665585.2:c.*406T>G	ENSP00000499570.2:n.*406T>G
ENST00000666593.2:c.8844T>G	ENSP00000499256.2:p.Ile2948Met
ENST00000700202.2:c.8844T>G	ENSP00000514856.2:p.Ile2948Met
ENST00000700202.1:c.1311T>G	ENSP00000514856.1:p.Ile437Met
ENST00000700203.1:n.971T>G
ENST00000380152.8:c.8844T>G MANE Select	ENSP00000369497.3:p.Ile2948Met
ENST00000544455.6:c.8844T>G	ENSP00000439902.1:p.Ile2948Met
ENST00000614259.2:c.8852T>G	ENSP00000506251.1:n.8852T>G
ENST00000665585.1:c.1722T>G
ENST00000680887.1:c.8844T>G	ENSP00000505508.1:p.Ile2948Met
ENST00000380152.7:c.8844T>G	ENSP00000369497.3:p.Ile2948Met
ENST00000528762.1:c.406T>G	ENSP00000433168.1:n.406T>G
ENST00000544455.5:c.8844T>G	ENSP00000439902.1:p.Ile2948Met
NM_000059.3:c.8844T>G , LRG_293t1:c.8844T>G	NP_000050.2:p.Ile2948Met
XM_011535203.1:c.8844T>G	XP_011533505.1:p.Ile2948Met
XM_011535204.1:c.8748T>G	XP_011533506.1:p.Ile2916Met
XM_011535205.1:c.8755-344T>G	XP_011533507.1:n.8755-344T>G
NM_000059.4:c.8844T>G MANE Select	NP_000050.3:p.Ile2948Met