Canonical Allele Identifier: CA6941310

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 390268
• ClinVar RCV Id: RCV000420596 ; RCV000580793 ; RCV004000535 ; RCV001406509
• dbSNP Id: rs771267741
• ExAC: 13:32953627 C / T
• gnomAD v2: 13-32953627-C-T
• gnomAD v4: 13-32379490-C-T
• MyVariant Identifiers: chr13:g.32953627C>T (hg19) ; chr13:g.32379490C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32379490C>T , CM000675.2:g.32379490C>T	GRCh38
NC_000013.10:g.32953627C>T , CM000675.1:g.32953627C>T	GRCh37
NC_000013.9:g.31851627C>T	NCBI36
NG_012772.3:g.69011C>T , LRG_293:g.69011C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.8928C>T	ENSP00000434898.2:p.Ser2976=
ENST00000528762.2:c.*295C>T	ENSP00000433168.2:n.*295C>T
ENST00000530893.7:c.8559C>T	ENSP00000499438.2:p.Ser2853=
ENST00000665585.2:c.*490C>T	ENSP00000499570.2:n.*490C>T
ENST00000666593.2:c.8928C>T	ENSP00000499256.2:p.Ser2976=
ENST00000700202.2:c.8928C>T	ENSP00000514856.2:p.Ser2976=
ENST00000700202.1:c.1395C>T	ENSP00000514856.1:p.Ser465=
ENST00000700203.1:n.1055C>T
ENST00000380152.8:c.8928C>T MANE Select	ENSP00000369497.3:p.Ser2976=
ENST00000544455.6:c.8928C>T	ENSP00000439902.1:p.Ser2976=
ENST00000614259.2:c.8936C>T	ENSP00000506251.1:n.8936C>T
ENST00000665585.1:c.1806C>T
ENST00000680887.1:c.8928C>T	ENSP00000505508.1:p.Ser2976=
ENST00000380152.7:c.8928C>T	ENSP00000369497.3:p.Ser2976=
ENST00000528762.1:c.490C>T	ENSP00000433168.1:n.490C>T
ENST00000544455.5:c.8928C>T	ENSP00000439902.1:p.Ser2976=
NM_000059.3:c.8928C>T , LRG_293t1:c.8928C>T	NP_000050.2:p.Ser2976=
XM_011535203.1:c.8928C>T	XP_011533505.1:p.Ser2976=
XM_011535204.1:c.8832C>T	XP_011533506.1:p.Ser2944=
XM_011535205.1:c.8755-260C>T	XP_011533507.1:n.8755-260C>T
NM_000059.4:c.8928C>T MANE Select	NP_000050.3:p.Ser2976=