Canonical Allele Identifier: CA013323

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 51199
• ClinVar RCV Id: RCV000077266 ; RCV000162912 ; RCV000496768 ; RCV000418517
• dbSNP Id: rs80358464
• MyVariant Identifiers: chr13:g.32907415T>G (hg19) ; chr13:g.32333278T>G (hg38)
• PubMed: PMID:23320992 ; PMID:24156927

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32333278T>G , CM000675.2:g.32333278T>G	GRCh38
NC_000013.10:g.32907415T>G , CM000675.1:g.32907415T>G	GRCh37
NC_000013.9:g.31805415T>G	NCBI36
NG_012772.3:g.22799T>G , LRG_293:g.22799T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.1800T>G	ENSP00000434898.2:p.Tyr600Ter
ENST00000528762.2:c.1800T>G	ENSP00000433168.2:p.Tyr600Ter
ENST00000530893.7:c.1431T>G	ENSP00000499438.2:p.Tyr477Ter
ENST00000665585.2:c.1800T>G	ENSP00000499570.2:p.Tyr600Ter
ENST00000666593.2:c.1800T>G	ENSP00000499256.2:p.Tyr600Ter
ENST00000700202.2:c.1800T>G	ENSP00000514856.2:p.Tyr600Ter
ENST00000700201.1:c.*1579T>G	ENSP00000514855.1:n.*1579T>G
ENST00000380152.8:c.1800T>G MANE Select	ENSP00000369497.3:p.Tyr600Ter
ENST00000544455.6:c.1800T>G	ENSP00000439902.1:p.Tyr600Ter
ENST00000614259.2:c.1800T>G	ENSP00000506251.1:p.Tyr600Ter
ENST00000680887.1:c.1800T>G	ENSP00000505508.1:p.Tyr600Ter
ENST00000380152.7:c.1800T>G	ENSP00000369497.3:p.Tyr600Ter
ENST00000530893.6:n.1998T>G
ENST00000544455.5:c.1800T>G	ENSP00000439902.1:p.Tyr600Ter
ENST00000614259.1:n.1800T>G
NM_000059.3:c.1800T>G , LRG_293t1:c.1800T>G	NP_000050.2:p.Tyr600Ter
XM_011535203.1:c.1800T>G	XP_011533505.1:p.Tyr600Ter
XM_011535204.1:c.1800T>G	XP_011533506.1:p.Tyr600Ter
XM_011535205.1:c.1800T>G	XP_011533507.1:p.Tyr600Ter
NM_000059.4:c.1800T>G MANE Select	NP_000050.3:p.Tyr600Ter