Canonical Allele Identifier: CA387749100

Gene: BRCA2

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32363259T>A , CM000675.2:g.32363259T>A	GRCh38
NC_000013.10:g.32937396T>A , CM000675.1:g.32937396T>A	GRCh37
NC_000013.9:g.31835396T>A	NCBI36
NG_012772.3:g.52780T>A , LRG_293:g.52780T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.8057T>A	ENSP00000434898.2:p.Leu2686His
ENST00000528762.2:c.8057T>A	ENSP00000433168.2:p.Leu2686His
ENST00000530893.7:c.7688T>A	ENSP00000499438.2:p.Leu2563His
ENST00000665585.2:c.8057T>A	ENSP00000499570.2:p.Leu2686His
ENST00000666593.2:c.8057T>A	ENSP00000499256.2:p.Leu2686His
ENST00000700202.2:c.8057T>A	ENSP00000514856.2:p.Leu2686His
ENST00000700202.1:c.524T>A	ENSP00000514856.1:p.Leu175His
ENST00000380152.8:c.8057T>A MANE Select	ENSP00000369497.3:p.Leu2686His
ENST00000544455.6:c.8057T>A	ENSP00000439902.1:p.Leu2686His
ENST00000614259.2:c.8065T>A	ENSP00000506251.1:n.8065T>A
ENST00000665585.1:c.622T>A
ENST00000680887.1:c.8057T>A	ENSP00000505508.1:p.Leu2686His
ENST00000380152.7:c.8057T>A	ENSP00000369497.3:p.Leu2686His
ENST00000544455.5:c.8057T>A	ENSP00000439902.1:p.Leu2686His
NM_000059.3:c.8057T>A , LRG_293t1:c.8057T>A	NP_000050.2:p.Leu2686His
XM_011535203.1:c.8057T>A	XP_011533505.1:p.Leu2686His
XM_011535204.1:c.7961T>A	XP_011533506.1:p.Leu2654His
XM_011535205.1:c.8057T>A	XP_011533507.1:p.Leu2686His
NM_000059.4:c.8057T>A MANE Select	NP_000050.3:p.Leu2686His