Canonical Allele Identifier: CA025911

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 182257
• ClinVar RCV Id: RCV000160161 ; RCV000221983 ; RCV000241294 ; RCV001041171
• dbSNP Id: rs397508025
• gnomAD v4: 13-32379774-C-G
• MyVariant Identifiers: chr13:g.32953911C>G (hg19) ; chr13:g.32379774C>G (hg38)
• PubMed: PMID:15887246

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32379774C>G , CM000675.2:g.32379774C>G	GRCh38
NC_000013.10:g.32953911C>G , CM000675.1:g.32953911C>G	GRCh37
NC_000013.9:g.31851911C>G	NCBI36
NG_012772.3:g.69295C>G , LRG_293:g.69295C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000470094.2:c.8978C>G	ENSP00000434898.2:p.Ser2993Ter
ENST00000528762.2:c.*345C>G	ENSP00000433168.2:n.*345C>G
ENST00000530893.7:c.8609C>G	ENSP00000499438.2:p.Ser2870Ter
ENST00000665585.2:c.*540C>G	ENSP00000499570.2:n.*540C>G
ENST00000666593.2:c.8978C>G	ENSP00000499256.2:p.Ser2993Ter
ENST00000700202.2:c.8954-27C>G	ENSP00000514856.2:n.8954-27C>G
ENST00000700202.1:c.1421-27C>G	ENSP00000514856.1:n.1421-27C>G
ENST00000700203.1:n.1105C>G
ENST00000380152.8:c.8978C>G MANE Select	ENSP00000369497.3:p.Ser2993Ter
ENST00000544455.6:c.8978C>G	ENSP00000439902.1:p.Ser2993Ter
ENST00000614259.2:c.8986C>G	ENSP00000506251.1:n.8986C>G
ENST00000665585.1:c.1856C>G
ENST00000680887.1:c.8978C>G	ENSP00000505508.1:p.Ser2993Ter
ENST00000380152.7:c.8978C>G	ENSP00000369497.3:p.Ser2993Ter
ENST00000544455.5:c.8978C>G	ENSP00000439902.1:p.Ser2993Ter
NM_000059.3:c.8978C>G , LRG_293t1:c.8978C>G	NP_000050.2:p.Ser2993Ter
XM_011535203.1:c.8978C>G	XP_011533505.1:p.Ser2993Ter
XM_011535204.1:c.8882C>G	XP_011533506.1:p.Ser2961Ter
XM_011535205.1:c.*16C>G	XP_011533507.1:n.*16C>G
NM_000059.4:c.8978C>G MANE Select	NP_000050.3:p.Ser2993Ter