Canonical Allele Identifier: CA6941151

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 1285132
• ClinVar RCV Id: RCV001703270
• dbSNP Id: rs751904687
• ExAC: 13:32936612 A / G
• gnomAD v2: 13-32936612-A-G
• gnomAD v3: 13-32362475-A-G
• gnomAD v4: 13-32362475-A-G
• MyVariant Identifiers: chr13:g.32936612A>G (hg19) ; chr13:g.32362475A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32362475A>G , CM000675.2:g.32362475A>G	GRCh38
NC_000013.10:g.32936612A>G , CM000675.1:g.32936612A>G	GRCh37
NC_000013.9:g.31834612A>G	NCBI36
NG_012772.3:g.51996A>G , LRG_293:g.51996A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.7806-48A>G	ENSP00000434898.2:n.7806-48A>G
ENST00000528762.2:c.7806-48A>G	ENSP00000433168.2:n.7806-48A>G
ENST00000530893.7:c.7437-48A>G	ENSP00000499438.2:n.7437-48A>G
ENST00000665585.2:c.7806-48A>G	ENSP00000499570.2:n.7806-48A>G
ENST00000666593.2:c.7806-48A>G	ENSP00000499256.2:n.7806-48A>G
ENST00000700202.2:c.7806-48A>G	ENSP00000514856.2:n.7806-48A>G
ENST00000700202.1:c.273-48A>G	ENSP00000514856.1:n.273-48A>G
ENST00000380152.8:c.7806-48A>G MANE Select	ENSP00000369497.3:n.7806-48A>G
ENST00000544455.6:c.7806-48A>G	ENSP00000439902.1:n.7806-48A>G
ENST00000614259.2:c.7806-40A>G	ENSP00000506251.1:n.7806-40A>G
ENST00000665585.1:c.371-48A>G
ENST00000680887.1:c.7806-48A>G	ENSP00000505508.1:n.7806-48A>G
ENST00000380152.7:c.7806-48A>G	ENSP00000369497.3:n.7806-48A>G
ENST00000544455.5:c.7806-48A>G	ENSP00000439902.1:n.7806-48A>G
ENST00000614259.1:n.7806-40A>G
NM_000059.3:c.7806-48A>G , LRG_293t1:c.7806-48A>G	NP_000050.2:n.7806-48A>G
XM_011535203.1:c.7806-48A>G	XP_011533505.1:n.7806-48A>G
XM_011535204.1:c.7710-48A>G	XP_011533506.1:n.7710-48A>G
XM_011535205.1:c.7806-48A>G	XP_011533507.1:n.7806-48A>G
NM_000059.4:c.7806-48A>G MANE Select	NP_000050.3:n.7806-48A>G