Canonical Allele Identifier: CA025614

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 38157
• ClinVar RCV Id: RCV000031740 ; RCV000045500 ; RCV000165807 ; RCV000679191 ; RCV003473219
• dbSNP Id: rs80359083
• gnomAD v4: 13-32370448-G-A
• MyVariant Identifiers: chr13:g.32944585G>A (hg19) ; chr13:g.32370448G>A (hg38)
• PubMed: PMID:10923033 ; PMID:19043619 ; PMID:22632462 ; PMID:23108138 ; PMID:23233716 ; PMID:23893897 ; PMID:24323938 ; PMID:26913838 ; PMID:27060066 ; PMID:29394989

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32370448G>A , CM000675.2:g.32370448G>A	GRCh38
NC_000013.10:g.32944585G>A , CM000675.1:g.32944585G>A	GRCh37
NC_000013.9:g.31842585G>A	NCBI36
NG_012772.3:g.59969G>A , LRG_293:g.59969G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.8378G>A	ENSP00000434898.2:p.Gly2793Glu
ENST00000528762.2:c.8378G>A	ENSP00000433168.2:p.Gly2793Glu
ENST00000530893.7:c.8009G>A	ENSP00000499438.2:p.Gly2670Glu
ENST00000665585.2:c.8378G>A	ENSP00000499570.2:p.Gly2793Glu
ENST00000666593.2:c.8378G>A	ENSP00000499256.2:p.Gly2793Glu
ENST00000700202.2:c.8378G>A	ENSP00000514856.2:p.Gly2793Glu
ENST00000700202.1:c.845G>A	ENSP00000514856.1:p.Gly282Glu
ENST00000380152.8:c.8378G>A MANE Select	ENSP00000369497.3:p.Gly2793Glu
ENST00000544455.6:c.8378G>A	ENSP00000439902.1:p.Gly2793Glu
ENST00000614259.2:c.8386G>A	ENSP00000506251.1:n.8386G>A
ENST00000665585.1:c.943G>A
ENST00000680887.1:c.8378G>A	ENSP00000505508.1:p.Gly2793Glu
ENST00000380152.7:c.8378G>A	ENSP00000369497.3:p.Gly2793Glu
ENST00000544455.5:c.8378G>A	ENSP00000439902.1:p.Gly2793Glu
NM_000059.3:c.8378G>A , LRG_293t1:c.8378G>A	NP_000050.2:p.Gly2793Glu
XM_011535203.1:c.8378G>A	XP_011533505.1:p.Gly2793Glu
XM_011535204.1:c.8282G>A	XP_011533506.1:p.Gly2761Glu
XM_011535205.1:c.8378G>A	XP_011533507.1:p.Gly2793Glu
NM_000059.4:c.8378G>A MANE Select	NP_000050.3:p.Gly2793Glu