Canonical Allele Identifier: CA6941260

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 2046963
• ClinVar RCV Id: RCV002914013
• dbSNP Id: rs748143090
• ExAC: 13:32945175 C / T
• gnomAD v2: 13-32945175-C-T
• gnomAD v4: 13-32371038-C-T
• MyVariant Identifiers: chr13:g.32945175C>T (hg19) ; chr13:g.32371038C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32371038C>T , CM000675.2:g.32371038C>T	GRCh38
NC_000013.10:g.32945175C>T , CM000675.1:g.32945175C>T	GRCh37
NC_000013.9:g.31843175C>T	NCBI36
NG_012772.3:g.60559C>T , LRG_293:g.60559C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000470094.2:c.8570C>T	ENSP00000434898.2:p.Ala2857Val
ENST00000528762.2:c.8570C>T	ENSP00000433168.2:p.Ala2857Val
ENST00000530893.7:c.8201C>T	ENSP00000499438.2:p.Ala2734Val
ENST00000665585.2:c.8570C>T	ENSP00000499570.2:p.Ala2857Val
ENST00000666593.2:c.8570C>T	ENSP00000499256.2:p.Ala2857Val
ENST00000700202.2:c.8570C>T	ENSP00000514856.2:p.Ala2857Val
ENST00000700202.1:c.1037C>T	ENSP00000514856.1:p.Ala346Val
ENST00000380152.8:c.8570C>T MANE Select	ENSP00000369497.3:p.Ala2857Val
ENST00000544455.6:c.8570C>T	ENSP00000439902.1:p.Ala2857Val
ENST00000614259.2:c.8578C>T	ENSP00000506251.1:n.8578C>T
ENST00000665585.1:c.1135C>T
ENST00000680887.1:c.8570C>T	ENSP00000505508.1:p.Ala2857Val
ENST00000380152.7:c.8570C>T	ENSP00000369497.3:p.Ala2857Val
ENST00000528762.1:c.68C>T	ENSP00000433168.1:p.Ala23Val
ENST00000544455.5:c.8570C>T	ENSP00000439902.1:p.Ala2857Val
NM_000059.3:c.8570C>T , LRG_293t1:c.8570C>T	NP_000050.2:p.Ala2857Val
XM_011535203.1:c.8570C>T	XP_011533505.1:p.Ala2857Val
XM_011535204.1:c.8474C>T	XP_011533506.1:p.Ala2825Val
XM_011535205.1:c.8570C>T	XP_011533507.1:p.Ala2857Val
NM_000059.4:c.8570C>T MANE Select	NP_000050.3:p.Ala2857Val