Canonical Allele Identifier: CA026227

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 38253
• ClinVar RCV Id: RCV000031836 ; RCV000496835 ; RCV000519756 ; RCV001019520
• dbSNP Id: rs80359230
• gnomAD v4: 13-32396995-C-G
• MyVariant Identifiers: chr13:g.32971132C>G (hg19) ; chr13:g.32396995C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32396995C>G , CM000675.2:g.32396995C>G	GRCh38
NC_000013.10:g.32971132C>G , CM000675.1:g.32971132C>G	GRCh37
NC_000013.9:g.31869132C>G	NCBI36
NG_012772.3:g.86516C>G , LRG_293:g.86516C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000470094.2:c.*122C>G	ENSP00000434898.2:n.*122C>G
ENST00000528762.2:c.*966C>G	ENSP00000433168.2:n.*966C>G
ENST00000530893.7:c.9230C>G	ENSP00000499438.2:p.Ser3077Ter
ENST00000665585.2:c.*1161C>G	ENSP00000499570.2:n.*1161C>G
ENST00000700202.2:c.9548C>G	ENSP00000514856.2:p.Ser3183Ter
ENST00000700202.1:c.2015C>G	ENSP00000514856.1:p.Ser672Ter
ENST00000700203.1:n.1726C>G
ENST00000380152.8:c.9599C>G MANE Select	ENSP00000369497.3:p.Ser3200Ter
ENST00000544455.6:c.9599C>G	ENSP00000439902.1:p.Ser3200Ter
ENST00000614259.2:c.9607C>G	ENSP00000506251.1:n.9607C>G
ENST00000665585.1:c.2477C>G
ENST00000680887.1:c.9599C>G	ENSP00000505508.1:p.Ser3200Ter
ENST00000380152.7:c.9599C>G	ENSP00000369497.3:p.Ser3200Ter
ENST00000470094.1:c.682C>G
ENST00000533776.1:n.187C>G
ENST00000544455.5:c.9599C>G	ENSP00000439902.1:p.Ser3200Ter
NM_000059.3:c.9599C>G , LRG_293t1:c.9599C>G	NP_000050.2:p.Ser3200Ter
XM_011535203.1:c.9599C>G	XP_011533505.1:p.Ser3200Ter
XM_011535204.1:c.9503C>G	XP_011533506.1:p.Ser3168Ter
NM_000059.4:c.9599C>G MANE Select	NP_000050.3:p.Ser3200Ter