Canonical Allele Identifier: CA6940383

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 379124
• ClinVar RCV Id: RCV000435919 ; RCV000471540
• dbSNP Id: rs765435155
• ExAC: 13:32900436 G / C
• gnomAD v2: 13-32900436-G-C
• gnomAD v3: 13-32326299-G-C
• gnomAD v4: 13-32326299-G-C
• MyVariant Identifiers: chr13:g.32900436G>C (hg19) ; chr13:g.32326299G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32326299G>C , CM000675.2:g.32326299G>C	GRCh38
NC_000013.10:g.32900436G>C , CM000675.1:g.32900436G>C	GRCh37
NC_000013.9:g.31798436G>C	NCBI36
NG_012772.3:g.15820G>C , LRG_293:g.15820G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.516+17G>C	ENSP00000434898.2:n.516+17G>C
ENST00000528762.2:c.516+17G>C	ENSP00000433168.2:n.516+17G>C
ENST00000530893.7:c.147+17G>C	ENSP00000499438.2:n.147+17G>C
ENST00000665585.2:c.516+17G>C	ENSP00000499570.2:n.516+17G>C
ENST00000666593.2:c.516+17G>C	ENSP00000499256.2:n.516+17G>C
ENST00000700202.2:c.516+17G>C	ENSP00000514856.2:n.516+17G>C
ENST00000700200.1:n.387+17G>C
ENST00000700201.1:c.*295+17G>C	ENSP00000514855.1:n.*295+17G>C
ENST00000380152.8:c.516+17G>C MANE Select	ENSP00000369497.3:n.516+17G>C
ENST00000544455.6:c.516+17G>C	ENSP00000439902.1:n.516+17G>C
ENST00000614259.2:c.516+17G>C	ENSP00000506251.1:n.516+17G>C
ENST00000680887.1:c.516+17G>C	ENSP00000505508.1:n.516+17G>C
ENST00000380152.7:c.516+17G>C	ENSP00000369497.3:n.516+17G>C
ENST00000530893.6:n.714+17G>C
ENST00000544455.5:c.516+17G>C	ENSP00000439902.1:n.516+17G>C
ENST00000614259.1:n.516+17G>C
NM_000059.3:c.516+17G>C , LRG_293t1:c.516+17G>C	NP_000050.2:n.516+17G>C
XM_011535203.1:c.516+17G>C	XP_011533505.1:n.516+17G>C
XM_011535204.1:c.516+17G>C	XP_011533506.1:n.516+17G>C
XM_011535205.1:c.516+17G>C	XP_011533507.1:n.516+17G>C
NM_000059.4:c.516+17G>C MANE Select	NP_000050.3:n.516+17G>C