Canonical Allele Identifier: CA387752584

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 481607
• ClinVar RCV Id: RCV000566230 ; RCV001320393 ; RCV001821668 ; RCV003227793 ; RCV003234782
• dbSNP Id: rs80359094
• gnomAD v4: 13-32370522-G-T
• MyVariant Identifiers: chr13:g.32944659G>T (hg19) ; chr13:g.32370522G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32370522G>T , CM000675.2:g.32370522G>T	GRCh38
NC_000013.10:g.32944659G>T , CM000675.1:g.32944659G>T	GRCh37
NC_000013.9:g.31842659G>T	NCBI36
NG_012772.3:g.60043G>T , LRG_293:g.60043G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.8452G>T	ENSP00000434898.2:p.Val2818Phe
ENST00000528762.2:c.8452G>T	ENSP00000433168.2:p.Val2818Phe
ENST00000530893.7:c.8083G>T	ENSP00000499438.2:p.Val2695Phe
ENST00000665585.2:c.8452G>T	ENSP00000499570.2:p.Val2818Phe
ENST00000666593.2:c.8452G>T	ENSP00000499256.2:p.Val2818Phe
ENST00000700202.2:c.8452G>T	ENSP00000514856.2:p.Val2818Phe
ENST00000700202.1:c.919G>T	ENSP00000514856.1:p.Val307Phe
ENST00000380152.8:c.8452G>T MANE Select	ENSP00000369497.3:p.Val2818Phe
ENST00000544455.6:c.8452G>T	ENSP00000439902.1:p.Val2818Phe
ENST00000614259.2:c.8460G>T	ENSP00000506251.1:n.8460G>T
ENST00000665585.1:c.1017G>T
ENST00000680887.1:c.8452G>T	ENSP00000505508.1:p.Val2818Phe
ENST00000380152.7:c.8452G>T	ENSP00000369497.3:p.Val2818Phe
ENST00000544455.5:c.8452G>T	ENSP00000439902.1:p.Val2818Phe
NM_000059.3:c.8452G>T , LRG_293t1:c.8452G>T	NP_000050.2:p.Val2818Phe
XM_011535203.1:c.8452G>T	XP_011533505.1:p.Val2818Phe
XM_011535204.1:c.8356G>T	XP_011533506.1:p.Val2786Phe
XM_011535205.1:c.8452G>T	XP_011533507.1:p.Val2818Phe
NM_000059.4:c.8452G>T MANE Select	NP_000050.3:p.Val2818Phe