Canonical Allele Identifier: CA019801

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 126095
• ClinVar RCV Id: RCV000113562 ; RCV000501114 ; RCV001536569 ; RCV002222166 ; RCV002326806
• dbSNP Id: rs11571610
• gnomAD v2: 13-32899388-A-C
• gnomAD v3: 13-32325251-A-C
• gnomAD v4: 13-32325251-A-C
• MyVariant Identifiers: chr13:g.32899388A>C (hg19) ; chr13:g.32325251A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32325251A>C , CM000675.2:g.32325251A>C	GRCh38
NC_000013.10:g.32899388A>C , CM000675.1:g.32899388A>C	GRCh37
NC_000013.9:g.31797388A>C	NCBI36
NG_012772.3:g.14772A>C , LRG_293:g.14772A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.425+67A>C	ENSP00000434898.2:n.425+67A>C
ENST00000528762.2:c.425+67A>C	ENSP00000433168.2:n.425+67A>C
ENST00000530893.7:c.56+67A>C	ENSP00000499438.2:n.56+67A>C
ENST00000665585.2:c.425+67A>C	ENSP00000499570.2:n.425+67A>C
ENST00000666593.2:c.425+67A>C	ENSP00000499256.2:n.425+67A>C
ENST00000700202.2:c.425+67A>C	ENSP00000514856.2:n.425+67A>C
ENST00000700200.1:n.296+67A>C
ENST00000700201.1:c.*204+67A>C	ENSP00000514855.1:n.*204+67A>C
ENST00000380152.8:c.425+67A>C MANE Select	ENSP00000369497.3:n.425+67A>C
ENST00000544455.6:c.425+67A>C	ENSP00000439902.1:n.425+67A>C
ENST00000614259.2:c.425+67A>C	ENSP00000506251.1:n.425+67A>C
ENST00000680887.1:c.425+67A>C	ENSP00000505508.1:n.425+67A>C
ENST00000380152.7:c.425+67A>C	ENSP00000369497.3:n.425+67A>C
ENST00000530893.6:n.623+67A>C
ENST00000544455.5:c.425+67A>C	ENSP00000439902.1:n.425+67A>C
ENST00000614259.1:n.425+67A>C
NM_000059.3:c.425+67A>C , LRG_293t1:c.425+67A>C	NP_000050.2:n.425+67A>C
XM_011535203.1:c.425+67A>C	XP_011533505.1:n.425+67A>C
XM_011535204.1:c.425+67A>C	XP_011533506.1:n.425+67A>C
XM_011535205.1:c.425+67A>C	XP_011533507.1:n.425+67A>C
NM_000059.4:c.425+67A>C MANE Select	NP_000050.3:n.425+67A>C