Canonical Allele Identifier: CA025783

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 38179
• ClinVar RCV Id: RCV000031762 ; RCV000045603 ; RCV000506732 ; RCV000566353 ; RCV000779984 ; RCV001269805
• dbSNP Id: rs397507411
• gnomAD v4: 13-32376732-C-T
• MyVariant Identifiers: chr13:g.32950869C>T (hg19) ; chr13:g.32376732C>T (hg38)
• PubMed: PMID:11802209 ; PMID:16826315 ; PMID:26026974

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32376732C>T , CM000675.2:g.32376732C>T	GRCh38
NC_000013.10:g.32950869C>T , CM000675.1:g.32950869C>T	GRCh37
NC_000013.9:g.31848869C>T	NCBI36
NG_012772.3:g.66253C>T , LRG_293:g.66253C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.8695C>T	ENSP00000434898.2:p.Gln2899Ter
ENST00000528762.2:c.*62C>T	ENSP00000433168.2:n.*62C>T
ENST00000530893.7:c.8326C>T	ENSP00000499438.2:p.Gln2776Ter
ENST00000665585.2:c.*257C>T	ENSP00000499570.2:n.*257C>T
ENST00000666593.2:c.8695C>T	ENSP00000499256.2:p.Gln2899Ter
ENST00000700202.2:c.8695C>T	ENSP00000514856.2:p.Gln2899Ter
ENST00000700202.1:c.1162C>T	ENSP00000514856.1:p.Gln388Ter
ENST00000700203.1:n.822C>T
ENST00000380152.8:c.8695C>T MANE Select	ENSP00000369497.3:p.Gln2899Ter
ENST00000544455.6:c.8695C>T	ENSP00000439902.1:p.Gln2899Ter
ENST00000614259.2:c.8703C>T	ENSP00000506251.1:n.8703C>T
ENST00000665585.1:c.1573C>T
ENST00000680887.1:c.8695C>T	ENSP00000505508.1:p.Gln2899Ter
ENST00000380152.7:c.8695C>T	ENSP00000369497.3:p.Gln2899Ter
ENST00000528762.1:c.257C>T	ENSP00000433168.1:n.257C>T
ENST00000544455.5:c.8695C>T	ENSP00000439902.1:p.Gln2899Ter
NM_000059.3:c.8695C>T , LRG_293t1:c.8695C>T	NP_000050.2:p.Gln2899Ter
XM_011535203.1:c.8695C>T	XP_011533505.1:p.Gln2899Ter
XM_011535204.1:c.8599C>T	XP_011533506.1:p.Gln2867Ter
XM_011535205.1:c.8695C>T	XP_011533507.1:p.Gln2899Ter
NM_000059.4:c.8695C>T MANE Select	NP_000050.3:p.Gln2899Ter