Canonical Allele Identifier: CA025773

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 52655
• ClinVar RCV Id: RCV000077447 ; RCV000131717 ; RCV000587037 ; RCV001175344 ; RCV001082637 ; RCV003607220
• dbSNP Id: rs80359127
• ExAC: 13:32950842 C / A
• gnomAD v2: 13-32950842-C-A
• gnomAD v3: 13-32376705-C-A
• gnomAD v4: 13-32376705-C-A
• MyVariant Identifiers: chr13:g.32950842C>A (hg19) ; chr13:g.32376705C>A (hg38)
• PubMed: PMID:10923033 ; PMID:19043619 ; PMID:21952622 ; PMID:24817641

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32376705C>A , CM000675.2:g.32376705C>A	GRCh38
NC_000013.10:g.32950842C>A , CM000675.1:g.32950842C>A	GRCh37
NC_000013.9:g.31848842C>A	NCBI36
NG_012772.3:g.66226C>A , LRG_293:g.66226C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.8668C>A	ENSP00000434898.2:p.Leu2890Ile
ENST00000528762.2:c.*35C>A	ENSP00000433168.2:n.*35C>A
ENST00000530893.7:c.8299C>A	ENSP00000499438.2:p.Leu2767Ile
ENST00000665585.2:c.*230C>A	ENSP00000499570.2:n.*230C>A
ENST00000666593.2:c.8668C>A	ENSP00000499256.2:p.Leu2890Ile
ENST00000700202.2:c.8668C>A	ENSP00000514856.2:p.Leu2890Ile
ENST00000700202.1:c.1135C>A	ENSP00000514856.1:p.Leu379Ile
ENST00000700203.1:n.795C>A
ENST00000380152.8:c.8668C>A MANE Select	ENSP00000369497.3:p.Leu2890Ile
ENST00000544455.6:c.8668C>A	ENSP00000439902.1:p.Leu2890Ile
ENST00000614259.2:c.8676C>A	ENSP00000506251.1:n.8676C>A
ENST00000665585.1:c.1546C>A
ENST00000680887.1:c.8668C>A	ENSP00000505508.1:p.Leu2890Ile
ENST00000380152.7:c.8668C>A	ENSP00000369497.3:p.Leu2890Ile
ENST00000528762.1:c.230C>A	ENSP00000433168.1:n.230C>A
ENST00000544455.5:c.8668C>A	ENSP00000439902.1:p.Leu2890Ile
NM_000059.3:c.8668C>A , LRG_293t1:c.8668C>A	NP_000050.2:p.Leu2890Ile
XM_011535203.1:c.8668C>A	XP_011533505.1:p.Leu2890Ile
XM_011535204.1:c.8572C>A	XP_011533506.1:p.Leu2858Ile
XM_011535205.1:c.8668C>A	XP_011533507.1:p.Leu2890Ile
NM_000059.4:c.8668C>A MANE Select	NP_000050.3:p.Leu2890Ile