Canonical Allele Identifier: CA025209

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 142785
• ClinVar RCV Id: RCV000132195
• dbSNP Id: rs80358992
• MyVariant Identifiers: chr13:g.32931904A>T (hg19) ; chr13:g.32357767A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32357767A>T , CM000675.2:g.32357767A>T	GRCh38
NC_000013.10:g.32931904A>T , CM000675.1:g.32931904A>T	GRCh37
NC_000013.9:g.31829904A>T	NCBI36
NG_012772.3:g.47288A>T , LRG_293:g.47288A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000470094.2:c.7643A>T	ENSP00000434898.2:p.His2548Leu
ENST00000528762.2:c.7643A>T	ENSP00000433168.2:p.His2548Leu
ENST00000530893.7:c.7274A>T	ENSP00000499438.2:p.His2425Leu
ENST00000665585.2:c.7643A>T	ENSP00000499570.2:p.His2548Leu
ENST00000666593.2:c.7643A>T	ENSP00000499256.2:p.His2548Leu
ENST00000700202.2:c.7643A>T	ENSP00000514856.2:p.His2548Leu
ENST00000700202.1:c.110A>T	ENSP00000514856.1:p.His37Leu
ENST00000380152.8:c.7643A>T MANE Select	ENSP00000369497.3:p.His2548Leu
ENST00000544455.6:c.7643A>T	ENSP00000439902.1:p.His2548Leu
ENST00000614259.2:c.7643A>T	ENSP00000506251.1:p.His2548Leu
ENST00000665585.1:c.208A>T
ENST00000680887.1:c.7643A>T	ENSP00000505508.1:p.His2548Leu
ENST00000380152.7:c.7643A>T	ENSP00000369497.3:p.His2548Leu
ENST00000544455.5:c.7643A>T	ENSP00000439902.1:p.His2548Leu
ENST00000614259.1:n.7643A>T
NM_000059.3:c.7643A>T , LRG_293t1:c.7643A>T	NP_000050.2:p.His2548Leu
XM_011535203.1:c.7643A>T	XP_011533505.1:p.His2548Leu
XM_011535204.1:c.7547A>T	XP_011533506.1:p.His2516Leu
XM_011535205.1:c.7643A>T	XP_011533507.1:p.His2548Leu
NM_000059.4:c.7643A>T MANE Select	NP_000050.3:p.His2548Leu