Canonical Allele Identifier: CA10579442

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 232627
• ClinVar RCV Id: RCV000217923 ; RCV001433009
• dbSNP Id: rs876659884
• MyVariant Identifiers: chr13:g.32890597A>T (hg19) ; chr13:g.32316460A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32316460A>T , CM000675.2:g.32316460A>T	GRCh38
NC_000013.10:g.32890597A>T , CM000675.1:g.32890597A>T	GRCh37
NC_000013.9:g.31788597A>T	NCBI36
NG_012772.3:g.5981A>T , LRG_293:g.5981A>T
NG_017006.1:g.495T>A
NG_017006.2:g.3904T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.-1A>T	ENSP00000434898.2:n.-1A>T
ENST00000528762.2:c.-1A>T	ENSP00000433168.2:n.-1A>T
ENST00000530893.7:c.-366A>T	ENSP00000499438.2:n.-366A>T
ENST00000665585.2:c.-1A>T	ENSP00000499570.2:n.-1A>T
ENST00000666593.2:c.-1A>T	ENSP00000499256.2:n.-1A>T
ENST00000700202.2:c.-1A>T	ENSP00000514856.2:n.-1A>T
ENST00000700199.1:n.124A>T
ENST00000700200.1:n.124A>T
ENST00000700201.1:c.-1A>T	ENSP00000514855.1:n.-1A>T
ENST00000380152.8:c.-1A>T MANE Select	ENSP00000369497.3:n.-1A>T
ENST00000544455.6:c.-1A>T	ENSP00000439902.1:n.-1A>T
ENST00000680887.1:c.-1A>T	ENSP00000505508.1:n.-1A>T
ENST00000380152.7:c.-1A>T	ENSP00000369497.3:n.-1A>T
ENST00000530893.6:n.202A>T
ENST00000544455.5:c.-1A>T	ENSP00000439902.1:n.-1A>T
NM_000059.3:c.-1A>T , LRG_293t1:c.-1A>T	NP_000050.2:n.-1A>T
XM_011535203.1:c.-1A>T	XP_011533505.1:n.-1A>T
XM_011535204.1:c.-1A>T	XP_011533506.1:n.-1A>T
XM_011535205.1:c.-1A>T	XP_011533507.1:n.-1A>T
NM_000059.4:c.-1A>T MANE Select	NP_000050.3:n.-1A>T