Canonical Allele Identifier: CA6941296

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 462495
• ClinVar RCV Id: RCV000552034 ; RCV000581422
• dbSNP Id: rs765765094
• ExAC: 13:32953436 T / C
• gnomAD v2: 13-32953436-T-C
• gnomAD v3: 13-32379299-T-C
• gnomAD v4: 13-32379299-T-C
• MyVariant Identifiers: chr13:g.32953436T>C (hg19) ; chr13:g.32379299T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32379299T>C , CM000675.2:g.32379299T>C	GRCh38
NC_000013.10:g.32953436T>C , CM000675.1:g.32953436T>C	GRCh37
NC_000013.9:g.31851436T>C	NCBI36
NG_012772.3:g.68820T>C , LRG_293:g.68820T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000470094.2:c.8755-18T>C	ENSP00000434898.2:n.8755-18T>C
ENST00000528762.2:c.*122-18T>C	ENSP00000433168.2:n.*122-18T>C
ENST00000530893.7:c.8386-18T>C	ENSP00000499438.2:n.8386-18T>C
ENST00000665585.2:c.*317-18T>C	ENSP00000499570.2:n.*317-18T>C
ENST00000666593.2:c.8755-18T>C	ENSP00000499256.2:n.8755-18T>C
ENST00000700202.2:c.8755-18T>C	ENSP00000514856.2:n.8755-18T>C
ENST00000700202.1:c.1222-18T>C	ENSP00000514856.1:n.1222-18T>C
ENST00000700203.1:n.882-18T>C
ENST00000380152.8:c.8755-18T>C MANE Select	ENSP00000369497.3:n.8755-18T>C
ENST00000544455.6:c.8755-18T>C	ENSP00000439902.1:n.8755-18T>C
ENST00000614259.2:c.8763-18T>C	ENSP00000506251.1:n.8763-18T>C
ENST00000665585.1:c.1633-18T>C
ENST00000680887.1:c.8755-18T>C	ENSP00000505508.1:n.8755-18T>C
ENST00000380152.7:c.8755-18T>C	ENSP00000369497.3:n.8755-18T>C
ENST00000528762.1:c.317-18T>C	ENSP00000433168.1:n.317-18T>C
ENST00000544455.5:c.8755-18T>C	ENSP00000439902.1:n.8755-18T>C
NM_000059.3:c.8755-18T>C , LRG_293t1:c.8755-18T>C	NP_000050.2:n.8755-18T>C
XM_011535203.1:c.8755-18T>C	XP_011533505.1:n.8755-18T>C
XM_011535204.1:c.8659-18T>C	XP_011533506.1:n.8659-18T>C
XM_011535205.1:c.8755-451T>C	XP_011533507.1:n.8755-451T>C
NM_000059.4:c.8755-18T>C MANE Select	NP_000050.3:n.8755-18T>C