Canonical Allele Identifier: CA387767083

Gene: BRCA2

Linked Data

• dbSNP Id: rs2137665049
• MyVariant Identifiers: chr13:g.32972573A>G (hg19) ; chr13:g.32398436A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32398436A>G , CM000675.2:g.32398436A>G	GRCh38
NC_000013.10:g.32972573A>G , CM000675.1:g.32972573A>G	GRCh37
NC_000013.9:g.31870573A>G	NCBI36
NG_012772.3:g.87957A>G , LRG_293:g.87957A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.*446A>G	ENSP00000434898.2:n.*446A>G
ENST00000528762.2:c.*1290A>G	ENSP00000433168.2:n.*1290A>G
ENST00000530893.7:c.9554A>G	ENSP00000499438.2:p.Tyr3185Cys
ENST00000665585.2:c.*1485A>G	ENSP00000499570.2:n.*1485A>G
ENST00000700202.2:c.9872A>G	ENSP00000514856.2:p.Tyr3291Cys
ENST00000700202.1:c.2339A>G	ENSP00000514856.1:p.Tyr780Cys
ENST00000700203.1:n.2050A>G
ENST00000380152.8:c.9923A>G MANE Select	ENSP00000369497.3:p.Tyr3308Cys
ENST00000544455.6:c.9923A>G	ENSP00000439902.1:p.Tyr3308Cys
ENST00000614259.2:c.9931A>G	ENSP00000506251.1:n.9931A>G
ENST00000680887.1:c.9923A>G	ENSP00000505508.1:p.Tyr3308Cys
ENST00000380152.7:c.9923A>G	ENSP00000369497.3:p.Tyr3308Cys
ENST00000533776.1:n.511A>G
ENST00000544455.5:c.9923A>G	ENSP00000439902.1:p.Tyr3308Cys
NM_000059.3:c.9923A>G , LRG_293t1:c.9923A>G	NP_000050.2:p.Tyr3308Cys
XM_011535203.1:c.9923A>G	XP_011533505.1:p.Tyr3308Cys
XM_011535204.1:c.9827A>G	XP_011533506.1:p.Tyr3276Cys
NM_000059.4:c.9923A>G MANE Select	NP_000050.3:p.Tyr3308Cys