Canonical Allele Identifier: CA387756178

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 1332462
• ClinVar RCV Id: RCV001805508
• dbSNP Id: rs1593936668
• MyVariant Identifiers: chr13:g.32953531C>G (hg19) ; chr13:g.32379394C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32379394C>G , CM000675.2:g.32379394C>G	GRCh38
NC_000013.10:g.32953531C>G , CM000675.1:g.32953531C>G	GRCh37
NC_000013.9:g.31851531C>G	NCBI36
NG_012772.3:g.68915C>G , LRG_293:g.68915C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000470094.2:c.8832C>G	ENSP00000434898.2:p.Ile2944Met
ENST00000528762.2:c.*199C>G	ENSP00000433168.2:n.*199C>G
ENST00000530893.7:c.8463C>G	ENSP00000499438.2:p.Ile2821Met
ENST00000665585.2:c.*394C>G	ENSP00000499570.2:n.*394C>G
ENST00000666593.2:c.8832C>G	ENSP00000499256.2:p.Ile2944Met
ENST00000700202.2:c.8832C>G	ENSP00000514856.2:p.Ile2944Met
ENST00000700202.1:c.1299C>G	ENSP00000514856.1:p.Ile433Met
ENST00000700203.1:n.959C>G
ENST00000380152.8:c.8832C>G MANE Select	ENSP00000369497.3:p.Ile2944Met
ENST00000544455.6:c.8832C>G	ENSP00000439902.1:p.Ile2944Met
ENST00000614259.2:c.8840C>G	ENSP00000506251.1:n.8840C>G
ENST00000665585.1:c.1710C>G
ENST00000680887.1:c.8832C>G	ENSP00000505508.1:p.Ile2944Met
ENST00000380152.7:c.8832C>G	ENSP00000369497.3:p.Ile2944Met
ENST00000528762.1:c.394C>G	ENSP00000433168.1:n.394C>G
ENST00000544455.5:c.8832C>G	ENSP00000439902.1:p.Ile2944Met
NM_000059.3:c.8832C>G , LRG_293t1:c.8832C>G	NP_000050.2:p.Ile2944Met
XM_011535203.1:c.8832C>G	XP_011533505.1:p.Ile2944Met
XM_011535204.1:c.8736C>G	XP_011533506.1:p.Ile2912Met
XM_011535205.1:c.8755-356C>G	XP_011533507.1:n.8755-356C>G
NM_000059.4:c.8832C>G MANE Select	NP_000050.3:p.Ile2944Met