Canonical Allele Identifier: CA025372

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 38132
• ClinVar RCV Id: RCV000031714 ; RCV000045368 ; RCV000162588 ; RCV000486971 ; RCV000507368 ; RCV003473215 ; RCV003483442
• dbSNP Id: rs81002874
• gnomAD v2: 13-32937315-G-C
• gnomAD v3: 13-32363178-G-C
• gnomAD v4: 13-32363178-G-C
• MyVariant Identifiers: chr13:g.32937315G>C (hg19) ; chr13:g.32363178G>C (hg38)
• PubMed: PMID:10923033 ; PMID:12048272 ; PMID:12474142 ; PMID:15728167 ; PMID:16211554 ; PMID:17063265 ; PMID:17419707 ; PMID:20002770 ; PMID:20020529 ; PMID:20043088 ; PMID:20736950 ; PMID:22006311 ; PMID:22527104 ; PMID:22711857 ; PMID:23479189 ; PMID:23569316 ; PMID:23747895 ; PMID:23893897 ; PMID:25085752 ; PMID:25685387 ; PMID:28008555
• ERepo: CA025372/MONDO:0012933/097 ; CA025372/MONDO:0700269/097

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32363178G>C , CM000675.2:g.32363178G>C	GRCh38
NC_000013.10:g.32937315G>C , CM000675.1:g.32937315G>C	GRCh37
NC_000013.9:g.31835315G>C	NCBI36
NG_012772.3:g.52699G>C , LRG_293:g.52699G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.7977-1G>C	ENSP00000434898.2:n.7977-1G>C
ENST00000528762.2:c.7977-1G>C	ENSP00000433168.2:n.7977-1G>C
ENST00000530893.7:c.7608-1G>C	ENSP00000499438.2:n.7608-1G>C
ENST00000665585.2:c.7977-1G>C	ENSP00000499570.2:n.7977-1G>C
ENST00000666593.2:c.7977-1G>C	ENSP00000499256.2:n.7977-1G>C
ENST00000700202.2:c.7977-1G>C	ENSP00000514856.2:n.7977-1G>C
ENST00000700202.1:c.444-1G>C	ENSP00000514856.1:n.444-1G>C
ENST00000380152.8:c.7977-1G>C MANE Select	ENSP00000369497.3:n.7977-1G>C
ENST00000544455.6:c.7977-1G>C	ENSP00000439902.1:n.7977-1G>C
ENST00000614259.2:c.7985-1G>C	ENSP00000506251.1:n.7985-1G>C
ENST00000665585.1:c.542-1G>C
ENST00000680887.1:c.7977-1G>C	ENSP00000505508.1:n.7977-1G>C
ENST00000380152.7:c.7977-1G>C	ENSP00000369497.3:n.7977-1G>C
ENST00000544455.5:c.7977-1G>C	ENSP00000439902.1:n.7977-1G>C
NM_000059.3:c.7977-1G>C , LRG_293t1:c.7977-1G>C	NP_000050.2:n.7977-1G>C
XM_011535203.1:c.7977-1G>C	XP_011533505.1:n.7977-1G>C
XM_011535204.1:c.7881-1G>C	XP_011533506.1:n.7881-1G>C
XM_011535205.1:c.7977-1G>C	XP_011533507.1:n.7977-1G>C
NM_000059.4:c.7977-1G>C MANE Select	NP_000050.3:n.7977-1G>C