Canonical Allele Identifier: CA024871

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 38084
• ClinVar RCV Id: RCV001353652 ; RCV001711136 ; RCV002250491 ; RCV003492318 ; RCV003894835
• dbSNP Id: rs397507382
• ExAC: 13:32929092 T / G
• gnomAD v2: 13-32929092-T-G
• gnomAD v3: 13-32354955-T-G
• gnomAD v4: 13-32354955-T-G
• MyVariant Identifiers: chr13:g.32929092T>G (hg19) ; chr13:g.32354955T>G (hg38)
• PubMed: PMID:21218378

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32354955T>G , CM000675.2:g.32354955T>G	GRCh38
NC_000013.10:g.32929092T>G , CM000675.1:g.32929092T>G	GRCh37
NC_000013.9:g.31827092T>G	NCBI36
NG_012772.3:g.44476T>G , LRG_293:g.44476T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000470094.2:c.7102T>G	ENSP00000434898.2:p.Leu2368Val
ENST00000528762.2:c.7102T>G	ENSP00000433168.2:p.Leu2368Val
ENST00000530893.7:c.6733T>G	ENSP00000499438.2:p.Leu2245Val
ENST00000665585.2:c.7102T>G	ENSP00000499570.2:p.Leu2368Val
ENST00000666593.2:c.7102T>G	ENSP00000499256.2:p.Leu2368Val
ENST00000700202.2:c.7102T>G	ENSP00000514856.2:p.Leu2368Val
ENST00000380152.8:c.7102T>G MANE Select	ENSP00000369497.3:p.Leu2368Val
ENST00000544455.6:c.7102T>G	ENSP00000439902.1:p.Leu2368Val
ENST00000614259.2:c.7102T>G	ENSP00000506251.1:p.Leu2368Val
ENST00000680887.1:c.7102T>G	ENSP00000505508.1:p.Leu2368Val
ENST00000380152.7:c.7102T>G	ENSP00000369497.3:p.Leu2368Val
ENST00000544455.5:c.7102T>G	ENSP00000439902.1:p.Leu2368Val
ENST00000614259.1:n.7102T>G
NM_000059.3:c.7102T>G , LRG_293t1:c.7102T>G	NP_000050.2:p.Leu2368Val
XM_011535203.1:c.7102T>G	XP_011533505.1:p.Leu2368Val
XM_011535204.1:c.7006T>G	XP_011533506.1:p.Leu2336Val
XM_011535205.1:c.7102T>G	XP_011533507.1:p.Leu2368Val
NM_000059.4:c.7102T>G MANE Select	NP_000050.3:p.Leu2368Val