Canonical Allele Identifier: CA025778

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 52658
• ClinVar RCV Id: RCV000577659 ; RCV000581796 ; RCV000585644 ; RCV000781156 ; RCV000661884
• dbSNP Id: rs397508002
• MyVariant Identifiers: chr13:g.32950854C>T (hg19) ; chr13:g.32376717C>T (hg38)
• PubMed: PMID:17972177

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32376717C>T , CM000675.2:g.32376717C>T	GRCh38
NC_000013.10:g.32950854C>T , CM000675.1:g.32950854C>T	GRCh37
NC_000013.9:g.31848854C>T	NCBI36
NG_012772.3:g.66238C>T , LRG_293:g.66238C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.8680C>T	ENSP00000434898.2:p.Gln2894Ter
ENST00000528762.2:c.*47C>T	ENSP00000433168.2:n.*47C>T
ENST00000530893.7:c.8311C>T	ENSP00000499438.2:p.Gln2771Ter
ENST00000665585.2:c.*242C>T	ENSP00000499570.2:n.*242C>T
ENST00000666593.2:c.8680C>T	ENSP00000499256.2:p.Gln2894Ter
ENST00000700202.2:c.8680C>T	ENSP00000514856.2:p.Gln2894Ter
ENST00000700202.1:c.1147C>T	ENSP00000514856.1:p.Gln383Ter
ENST00000700203.1:n.807C>T
ENST00000380152.8:c.8680C>T MANE Select	ENSP00000369497.3:p.Gln2894Ter
ENST00000544455.6:c.8680C>T	ENSP00000439902.1:p.Gln2894Ter
ENST00000614259.2:c.8688C>T	ENSP00000506251.1:n.8688C>T
ENST00000665585.1:c.1558C>T
ENST00000680887.1:c.8680C>T	ENSP00000505508.1:p.Gln2894Ter
ENST00000380152.7:c.8680C>T	ENSP00000369497.3:p.Gln2894Ter
ENST00000528762.1:c.242C>T	ENSP00000433168.1:n.242C>T
ENST00000544455.5:c.8680C>T	ENSP00000439902.1:p.Gln2894Ter
NM_000059.3:c.8680C>T , LRG_293t1:c.8680C>T	NP_000050.2:p.Gln2894Ter
XM_011535203.1:c.8680C>T	XP_011533505.1:p.Gln2894Ter
XM_011535204.1:c.8584C>T	XP_011533506.1:p.Gln2862Ter
XM_011535205.1:c.8680C>T	XP_011533507.1:p.Gln2894Ter
NM_000059.4:c.8680C>T MANE Select	NP_000050.3:p.Gln2894Ter