Canonical Allele Identifier: CA387757485

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 1001941
• ClinVar RCV Id: RCV001298300 ; RCV002375348
• dbSNP Id: rs864622696
• MyVariant Identifiers: chr13:g.32953955A>T (hg19) ; chr13:g.32379818A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32379818A>T , CM000675.2:g.32379818A>T	GRCh38
NC_000013.10:g.32953955A>T , CM000675.1:g.32953955A>T	GRCh37
NC_000013.9:g.31851955A>T	NCBI36
NG_012772.3:g.69339A>T , LRG_293:g.69339A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.9022A>T	ENSP00000434898.2:p.Ile3008Phe
ENST00000528762.2:c.*389A>T	ENSP00000433168.2:n.*389A>T
ENST00000530893.7:c.8653A>T	ENSP00000499438.2:p.Ile2885Phe
ENST00000665585.2:c.*584A>T	ENSP00000499570.2:n.*584A>T
ENST00000666593.2:c.9022A>T	ENSP00000499256.2:p.Ile3008Phe
ENST00000700202.2:c.8971A>T	ENSP00000514856.2:p.Ile2991Phe
ENST00000700202.1:c.1438A>T	ENSP00000514856.1:p.Ile480Phe
ENST00000700203.1:n.1149A>T
ENST00000380152.8:c.9022A>T MANE Select	ENSP00000369497.3:p.Ile3008Phe
ENST00000544455.6:c.9022A>T	ENSP00000439902.1:p.Ile3008Phe
ENST00000614259.2:c.9030A>T	ENSP00000506251.1:n.9030A>T
ENST00000665585.1:c.1900A>T
ENST00000680887.1:c.9022A>T	ENSP00000505508.1:p.Ile3008Phe
ENST00000380152.7:c.9022A>T	ENSP00000369497.3:p.Ile3008Phe
ENST00000544455.5:c.9022A>T	ENSP00000439902.1:p.Ile3008Phe
NM_000059.3:c.9022A>T , LRG_293t1:c.9022A>T	NP_000050.2:p.Ile3008Phe
XM_011535203.1:c.9022A>T	XP_011533505.1:p.Ile3008Phe
XM_011535204.1:c.8926A>T	XP_011533506.1:p.Ile2976Phe
XM_011535205.1:c.*60A>T	XP_011533507.1:n.*60A>T
NM_000059.4:c.9022A>T MANE Select	NP_000050.3:p.Ile3008Phe