Canonical Allele Identifier: CA025870

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 52700
• ClinVar RCV Id: RCV000114014 ; RCV000212282 ; RCV000215767 ; RCV001346965 ; RCV002222370 ; RCV003460626
• dbSNP Id: rs80359142
• ExAC: 13:32953614 T / G
• gnomAD v2: 13-32953614-T-G
• gnomAD v3: 13-32379477-T-G
• gnomAD v4: 13-32379477-T-G
• MyVariant Identifiers: chr13:g.32953614T>G (hg19) ; chr13:g.32379477T>G (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.8915T>G	ENSP00000434898.2:p.Leu2972Trp
ENST00000528762.2:c.*282T>G	ENSP00000433168.2:n.*282T>G
ENST00000530893.7:c.8546T>G	ENSP00000499438.2:p.Leu2849Trp
ENST00000665585.2:c.*477T>G	ENSP00000499570.2:n.*477T>G
ENST00000666593.2:c.8915T>G	ENSP00000499256.2:p.Leu2972Trp
ENST00000700202.2:c.8915T>G	ENSP00000514856.2:p.Leu2972Trp
ENST00000700202.1:c.1382T>G	ENSP00000514856.1:p.Leu461Trp
ENST00000700203.1:n.1042T>G
ENST00000380152.8:c.8915T>G MANE Select	ENSP00000369497.3:p.Leu2972Trp
ENST00000544455.6:c.8915T>G	ENSP00000439902.1:p.Leu2972Trp
ENST00000614259.2:c.8923T>G	ENSP00000506251.1:n.8923T>G
ENST00000665585.1:c.1793T>G
ENST00000680887.1:c.8915T>G	ENSP00000505508.1:p.Leu2972Trp
ENST00000380152.7:c.8915T>G	ENSP00000369497.3:p.Leu2972Trp
ENST00000528762.1:c.477T>G	ENSP00000433168.1:n.477T>G
ENST00000544455.5:c.8915T>G	ENSP00000439902.1:p.Leu2972Trp
NM_000059.3:c.8915T>G , LRG_293t1:c.8915T>G	NP_000050.2:p.Leu2972Trp
XM_011535203.1:c.8915T>G	XP_011533505.1:p.Leu2972Trp
XM_011535204.1:c.8819T>G	XP_011533506.1:p.Leu2940Trp
XM_011535205.1:c.8755-273T>G	XP_011533507.1:n.8755-273T>G
NM_000059.4:c.8915T>G MANE Select	NP_000050.3:p.Leu2972Trp