Canonical Allele Identifier: CA387757289

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 1718427
• ClinVar RCV Id: RCV002299815
• MyVariant Identifiers: chr13:g.32953623T>A (hg19) ; chr13:g.32379486T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32379486T>A , CM000675.2:g.32379486T>A	GRCh38
NC_000013.10:g.32953623T>A , CM000675.1:g.32953623T>A	GRCh37
NC_000013.9:g.31851623T>A	NCBI36
NG_012772.3:g.69007T>A , LRG_293:g.69007T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.8924T>A	ENSP00000434898.2:p.Val2975Glu
ENST00000528762.2:c.*291T>A	ENSP00000433168.2:n.*291T>A
ENST00000530893.7:c.8555T>A	ENSP00000499438.2:p.Val2852Glu
ENST00000665585.2:c.*486T>A	ENSP00000499570.2:n.*486T>A
ENST00000666593.2:c.8924T>A	ENSP00000499256.2:p.Val2975Glu
ENST00000700202.2:c.8924T>A	ENSP00000514856.2:p.Val2975Glu
ENST00000700202.1:c.1391T>A	ENSP00000514856.1:p.Val464Glu
ENST00000700203.1:n.1051T>A
ENST00000380152.8:c.8924T>A MANE Select	ENSP00000369497.3:p.Val2975Glu
ENST00000544455.6:c.8924T>A	ENSP00000439902.1:p.Val2975Glu
ENST00000614259.2:c.8932T>A	ENSP00000506251.1:n.8932T>A
ENST00000665585.1:c.1802T>A
ENST00000680887.1:c.8924T>A	ENSP00000505508.1:p.Val2975Glu
ENST00000380152.7:c.8924T>A	ENSP00000369497.3:p.Val2975Glu
ENST00000528762.1:c.486T>A	ENSP00000433168.1:n.486T>A
ENST00000544455.5:c.8924T>A	ENSP00000439902.1:p.Val2975Glu
NM_000059.3:c.8924T>A , LRG_293t1:c.8924T>A	NP_000050.2:p.Val2975Glu
XM_011535203.1:c.8924T>A	XP_011533505.1:p.Val2975Glu
XM_011535204.1:c.8828T>A	XP_011533506.1:p.Val2943Glu
XM_011535205.1:c.8755-264T>A	XP_011533507.1:n.8755-264T>A
NM_000059.4:c.8924T>A MANE Select	NP_000050.3:p.Val2975Glu