Canonical Allele Identifier: CA350041

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 220336
• ClinVar RCV Id: RCV000220268 ; RCV000426343 ; RCV000495458 ; RCV001083642 ; RCV001170978 ; RCV001706192
• dbSNP Id: rs41293519
• ExAC: 13:32953603 C / T
• gnomAD v2: 13-32953603-C-T
• gnomAD v3: 13-32379466-C-T
• gnomAD v4: 13-32379466-C-T
• MyVariant Identifiers: chr13:g.32953603C>T (hg19) ; chr13:g.32379466C>T (hg38)
• PubMed: PMID:17724471 ; PMID:21120943

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32379466C>T , CM000675.2:g.32379466C>T	GRCh38
NC_000013.10:g.32953603C>T , CM000675.1:g.32953603C>T	GRCh37
NC_000013.9:g.31851603C>T	NCBI36
NG_012772.3:g.68987C>T , LRG_293:g.68987C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.8904C>T	ENSP00000434898.2:p.Thr2968=
ENST00000528762.2:c.*271C>T	ENSP00000433168.2:n.*271C>T
ENST00000530893.7:c.8535C>T	ENSP00000499438.2:p.Thr2845=
ENST00000665585.2:c.*466C>T	ENSP00000499570.2:n.*466C>T
ENST00000666593.2:c.8904C>T	ENSP00000499256.2:p.Thr2968=
ENST00000700202.2:c.8904C>T	ENSP00000514856.2:p.Thr2968=
ENST00000700202.1:c.1371C>T	ENSP00000514856.1:p.Thr457=
ENST00000700203.1:n.1031C>T
ENST00000380152.8:c.8904C>T MANE Select	ENSP00000369497.3:p.Thr2968=
ENST00000544455.6:c.8904C>T	ENSP00000439902.1:p.Thr2968=
ENST00000614259.2:c.8912C>T	ENSP00000506251.1:n.8912C>T
ENST00000665585.1:c.1782C>T
ENST00000680887.1:c.8904C>T	ENSP00000505508.1:p.Thr2968=
ENST00000380152.7:c.8904C>T	ENSP00000369497.3:p.Thr2968=
ENST00000528762.1:c.466C>T	ENSP00000433168.1:n.466C>T
ENST00000544455.5:c.8904C>T	ENSP00000439902.1:p.Thr2968=
NM_000059.3:c.8904C>T , LRG_293t1:c.8904C>T	NP_000050.2:p.Thr2968=
XM_011535203.1:c.8904C>T	XP_011533505.1:p.Thr2968=
XM_011535204.1:c.8808C>T	XP_011533506.1:p.Thr2936=
XM_011535205.1:c.8755-284C>T	XP_011533507.1:n.8755-284C>T
NM_000059.4:c.8904C>T MANE Select	NP_000050.3:p.Thr2968=