Canonical Allele Identifier: CA025776

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 38177
• ClinVar RCV Id: RCV000031760 ; RCV000045600 ; RCV000413575 ; RCV001018169 ; RCV002482934 ; RCV003448249
• dbSNP Id: rs397507409
• MyVariant Identifiers: chr13:g.32950851C>T (hg19) ; chr13:g.32376714C>T (hg38)
• PubMed: PMID:9609997

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32376714C>T , CM000675.2:g.32376714C>T	GRCh38
NC_000013.10:g.32950851C>T , CM000675.1:g.32950851C>T	GRCh37
NC_000013.9:g.31848851C>T	NCBI36
NG_012772.3:g.66235C>T , LRG_293:g.66235C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.8677C>T	ENSP00000434898.2:p.Gln2893Ter
ENST00000528762.2:c.*44C>T	ENSP00000433168.2:n.*44C>T
ENST00000530893.7:c.8308C>T	ENSP00000499438.2:p.Gln2770Ter
ENST00000665585.2:c.*239C>T	ENSP00000499570.2:n.*239C>T
ENST00000666593.2:c.8677C>T	ENSP00000499256.2:p.Gln2893Ter
ENST00000700202.2:c.8677C>T	ENSP00000514856.2:p.Gln2893Ter
ENST00000700202.1:c.1144C>T	ENSP00000514856.1:p.Gln382Ter
ENST00000700203.1:n.804C>T
ENST00000380152.8:c.8677C>T MANE Select	ENSP00000369497.3:p.Gln2893Ter
ENST00000544455.6:c.8677C>T	ENSP00000439902.1:p.Gln2893Ter
ENST00000614259.2:c.8685C>T	ENSP00000506251.1:n.8685C>T
ENST00000665585.1:c.1555C>T
ENST00000680887.1:c.8677C>T	ENSP00000505508.1:p.Gln2893Ter
ENST00000380152.7:c.8677C>T	ENSP00000369497.3:p.Gln2893Ter
ENST00000528762.1:c.239C>T	ENSP00000433168.1:n.239C>T
ENST00000544455.5:c.8677C>T	ENSP00000439902.1:p.Gln2893Ter
NM_000059.3:c.8677C>T , LRG_293t1:c.8677C>T	NP_000050.2:p.Gln2893Ter
XM_011535203.1:c.8677C>T	XP_011533505.1:p.Gln2893Ter
XM_011535204.1:c.8581C>T	XP_011533506.1:p.Gln2861Ter
XM_011535205.1:c.8677C>T	XP_011533507.1:p.Gln2893Ter
NM_000059.4:c.8677C>T MANE Select	NP_000050.3:p.Gln2893Ter