Canonical Allele Identifier: CA025837

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 52686
• ClinVar RCV Id: RCV000256787 ; RCV003162393 ; RCV003529949
• dbSNP Id: rs397508012
• MyVariant Identifiers: chr13:g.32953520C>T (hg19) ; chr13:g.32379383C>T (hg38)
• PubMed: PMID:21318380

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32379383C>T , CM000675.2:g.32379383C>T	GRCh38
NC_000013.10:g.32953520C>T , CM000675.1:g.32953520C>T	GRCh37
NC_000013.9:g.31851520C>T	NCBI36
NG_012772.3:g.68904C>T , LRG_293:g.68904C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.8821C>T	ENSP00000434898.2:p.Gln2941Ter
ENST00000528762.2:c.*188C>T	ENSP00000433168.2:n.*188C>T
ENST00000530893.7:c.8452C>T	ENSP00000499438.2:p.Gln2818Ter
ENST00000665585.2:c.*383C>T	ENSP00000499570.2:n.*383C>T
ENST00000666593.2:c.8821C>T	ENSP00000499256.2:p.Gln2941Ter
ENST00000700202.2:c.8821C>T	ENSP00000514856.2:p.Gln2941Ter
ENST00000700202.1:c.1288C>T	ENSP00000514856.1:p.Gln430Ter
ENST00000700203.1:n.948C>T
ENST00000380152.8:c.8821C>T MANE Select	ENSP00000369497.3:p.Gln2941Ter
ENST00000544455.6:c.8821C>T	ENSP00000439902.1:p.Gln2941Ter
ENST00000614259.2:c.8829C>T	ENSP00000506251.1:n.8829C>T
ENST00000665585.1:c.1699C>T
ENST00000680887.1:c.8821C>T	ENSP00000505508.1:p.Gln2941Ter
ENST00000380152.7:c.8821C>T	ENSP00000369497.3:p.Gln2941Ter
ENST00000528762.1:c.383C>T	ENSP00000433168.1:n.383C>T
ENST00000544455.5:c.8821C>T	ENSP00000439902.1:p.Gln2941Ter
NM_000059.3:c.8821C>T , LRG_293t1:c.8821C>T	NP_000050.2:p.Gln2941Ter
XM_011535203.1:c.8821C>T	XP_011533505.1:p.Gln2941Ter
XM_011535204.1:c.8725C>T	XP_011533506.1:p.Gln2909Ter
XM_011535205.1:c.8755-367C>T	XP_011533507.1:n.8755-367C>T
NM_000059.4:c.8821C>T MANE Select	NP_000050.3:p.Gln2941Ter