Canonical Allele Identifier: CA10589524

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 267115
• ClinVar RCV Id: RCV000256493 ; RCV000429396 ; RCV002518784
• dbSNP Id: rs80359142
• MyVariant Identifiers: chr13:g.32953614T>A (hg19) ; chr13:g.32379477T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32379477T>A , CM000675.2:g.32379477T>A	GRCh38
NC_000013.10:g.32953614T>A , CM000675.1:g.32953614T>A	GRCh37
NC_000013.9:g.31851614T>A	NCBI36
NG_012772.3:g.68998T>A , LRG_293:g.68998T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.8915T>A	ENSP00000434898.2:p.Leu2972Ter
ENST00000528762.2:c.*282T>A	ENSP00000433168.2:n.*282T>A
ENST00000530893.7:c.8546T>A	ENSP00000499438.2:p.Leu2849Ter
ENST00000665585.2:c.*477T>A	ENSP00000499570.2:n.*477T>A
ENST00000666593.2:c.8915T>A	ENSP00000499256.2:p.Leu2972Ter
ENST00000700202.2:c.8915T>A	ENSP00000514856.2:p.Leu2972Ter
ENST00000700202.1:c.1382T>A	ENSP00000514856.1:p.Leu461Ter
ENST00000700203.1:n.1042T>A
ENST00000380152.8:c.8915T>A MANE Select	ENSP00000369497.3:p.Leu2972Ter
ENST00000544455.6:c.8915T>A	ENSP00000439902.1:p.Leu2972Ter
ENST00000614259.2:c.8923T>A	ENSP00000506251.1:n.8923T>A
ENST00000665585.1:c.1793T>A
ENST00000680887.1:c.8915T>A	ENSP00000505508.1:p.Leu2972Ter
ENST00000380152.7:c.8915T>A	ENSP00000369497.3:p.Leu2972Ter
ENST00000528762.1:c.477T>A	ENSP00000433168.1:n.477T>A
ENST00000544455.5:c.8915T>A	ENSP00000439902.1:p.Leu2972Ter
NM_000059.3:c.8915T>A , LRG_293t1:c.8915T>A	NP_000050.2:p.Leu2972Ter
XM_011535203.1:c.8915T>A	XP_011533505.1:p.Leu2972Ter
XM_011535204.1:c.8819T>A	XP_011533506.1:p.Leu2940Ter
XM_011535205.1:c.8755-273T>A	XP_011533507.1:n.8755-273T>A
NM_000059.4:c.8915T>A MANE Select	NP_000050.3:p.Leu2972Ter