Canonical Allele Identifier: CA645509354

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 438974
• ClinVar RCV Id: RCV000507187 ; RCV000687385 ; RCV000624975 ; RCV003372734 ; RCV003464087
• dbSNP Id: rs1555280053
• MyVariant Identifiers: chr13:g.32890557A>G (hg19) ; chr13:g.32316420A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32316420A>G , CM000675.2:g.32316420A>G	GRCh38
NC_000013.10:g.32890557A>G , CM000675.1:g.32890557A>G	GRCh37
NC_000013.9:g.31788557A>G	NCBI36
NG_012772.3:g.5941A>G , LRG_293:g.5941A>G
NG_017006.1:g.535T>C
NG_017006.2:g.3944T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.-39-2A>G	ENSP00000434898.2:n.-39-2A>G
ENST00000528762.2:c.-39-2A>G	ENSP00000433168.2:n.-39-2A>G
ENST00000530893.7:c.-404-2A>G	ENSP00000499438.2:n.-404-2A>G
ENST00000665585.2:c.-39-2A>G	ENSP00000499570.2:n.-39-2A>G
ENST00000666593.2:c.-39-2A>G	ENSP00000499256.2:n.-39-2A>G
ENST00000700202.2:c.-39-2A>G	ENSP00000514856.2:n.-39-2A>G
ENST00000700199.1:n.86-2A>G
ENST00000700200.1:n.86-2A>G
ENST00000700201.1:c.-39-2A>G	ENSP00000514855.1:n.-39-2A>G
ENST00000380152.8:c.-39-2A>G MANE Select	ENSP00000369497.3:n.-39-2A>G
ENST00000544455.6:c.-39-2A>G	ENSP00000439902.1:n.-39-2A>G
ENST00000680887.1:c.-39-2A>G	ENSP00000505508.1:n.-39-2A>G
ENST00000380152.7:c.-39-2A>G	ENSP00000369497.3:n.-39-2A>G
ENST00000530893.6:n.164-2A>G
ENST00000544455.5:c.-39-2A>G	ENSP00000439902.1:n.-39-2A>G
NM_000059.3:c.-39-2A>G , LRG_293t1:c.-39-2A>G	NP_000050.2:n.-39-2A>G
XM_011535203.1:c.-39-2A>G	XP_011533505.1:n.-39-2A>G
XM_011535204.1:c.-39-2A>G	XP_011533506.1:n.-39-2A>G
XM_011535205.1:c.-39-2A>G	XP_011533507.1:n.-39-2A>G
NM_000059.4:c.-39-2A>G MANE Select	NP_000050.3:n.-39-2A>G