Canonical Allele Identifier: CA387757357

Gene: BRCA2

Linked Data

• dbSNP Id: rs1295695210
• MyVariant Identifiers: chr13:g.32953887T>A (hg19) ; chr13:g.32379750T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32379750T>A , CM000675.2:g.32379750T>A	GRCh38
NC_000013.10:g.32953887T>A , CM000675.1:g.32953887T>A	GRCh37
NC_000013.9:g.31851887T>A	NCBI36
NG_012772.3:g.69271T>A , LRG_293:g.69271T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.8954T>A	ENSP00000434898.2:p.Val2985Asp
ENST00000528762.2:c.*321T>A	ENSP00000433168.2:n.*321T>A
ENST00000530893.7:c.8585T>A	ENSP00000499438.2:p.Val2862Asp
ENST00000665585.2:c.*516T>A	ENSP00000499570.2:n.*516T>A
ENST00000666593.2:c.8954T>A	ENSP00000499256.2:p.Val2985Asp
ENST00000700202.2:c.8954-51T>A	ENSP00000514856.2:n.8954-51T>A
ENST00000700202.1:c.1421-51T>A	ENSP00000514856.1:n.1421-51T>A
ENST00000700203.1:n.1081T>A
ENST00000380152.8:c.8954T>A MANE Select	ENSP00000369497.3:p.Val2985Asp
ENST00000544455.6:c.8954T>A	ENSP00000439902.1:p.Val2985Asp
ENST00000614259.2:c.8962T>A	ENSP00000506251.1:n.8962T>A
ENST00000665585.1:c.1832T>A
ENST00000680887.1:c.8954T>A	ENSP00000505508.1:p.Val2985Asp
ENST00000380152.7:c.8954T>A	ENSP00000369497.3:p.Val2985Asp
ENST00000544455.5:c.8954T>A	ENSP00000439902.1:p.Val2985Asp
NM_000059.3:c.8954T>A , LRG_293t1:c.8954T>A	NP_000050.2:p.Val2985Asp
XM_011535203.1:c.8954T>A	XP_011533505.1:p.Val2985Asp
XM_011535204.1:c.8858T>A	XP_011533506.1:p.Val2953Asp
XM_011535205.1:c.8755T>A	XP_011533507.1:p.Leu2919Ile
NM_000059.4:c.8954T>A MANE Select	NP_000050.3:p.Val2985Asp