Canonical Allele Identifier: CA387759930

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 1435008
• ClinVar RCV Id: RCV001955212
• dbSNP Id: rs1359997059
• gnomAD v2: 13-32905080-C-T
• gnomAD v4: 13-32330943-C-T
• MyVariant Identifiers: chr13:g.32905080C>T (hg19) ; chr13:g.32330943C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32330943C>T , CM000675.2:g.32330943C>T	GRCh38
NC_000013.10:g.32905080C>T , CM000675.1:g.32905080C>T	GRCh37
NC_000013.9:g.31803080C>T	NCBI36
NG_012772.3:g.20464C>T , LRG_293:g.20464C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000470094.2:c.706C>T	ENSP00000434898.2:p.His236Tyr
ENST00000528762.2:c.706C>T	ENSP00000433168.2:p.His236Tyr
ENST00000530893.7:c.337C>T	ENSP00000499438.2:p.His113Tyr
ENST00000665585.2:c.706C>T	ENSP00000499570.2:p.His236Tyr
ENST00000666593.2:c.706C>T	ENSP00000499256.2:p.His236Tyr
ENST00000700202.2:c.706C>T	ENSP00000514856.2:p.His236Tyr
ENST00000700201.1:c.*485C>T	ENSP00000514855.1:n.*485C>T
ENST00000380152.8:c.706C>T MANE Select	ENSP00000369497.3:p.His236Tyr
ENST00000544455.6:c.706C>T	ENSP00000439902.1:p.His236Tyr
ENST00000614259.2:c.706C>T	ENSP00000506251.1:p.His236Tyr
ENST00000680887.1:c.706C>T	ENSP00000505508.1:p.His236Tyr
ENST00000380152.7:c.706C>T	ENSP00000369497.3:p.His236Tyr
ENST00000530893.6:n.904C>T
ENST00000544455.5:c.706C>T	ENSP00000439902.1:p.His236Tyr
ENST00000614259.1:n.706C>T
NM_000059.3:c.706C>T , LRG_293t1:c.706C>T	NP_000050.2:p.His236Tyr
XM_011535203.1:c.706C>T	XP_011533505.1:p.His236Tyr
XM_011535204.1:c.706C>T	XP_011533506.1:p.His236Tyr
XM_011535205.1:c.706C>T	XP_011533507.1:p.His236Tyr
NM_000059.4:c.706C>T MANE Select	NP_000050.3:p.His236Tyr