Canonical Allele Identifier: CA387747230

Gene: BRCA2

Linked Data

• dbSNP Id: rs1131692131
• MyVariant Identifiers: chr13:g.32936798C>G (hg19) ; chr13:g.32362661C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32362661C>G , CM000675.2:g.32362661C>G	GRCh38
NC_000013.10:g.32936798C>G , CM000675.1:g.32936798C>G	GRCh37
NC_000013.9:g.31834798C>G	NCBI36
NG_012772.3:g.52182C>G , LRG_293:g.52182C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.7944C>G	ENSP00000434898.2:p.Ser2648Arg
ENST00000528762.2:c.7944C>G	ENSP00000433168.2:p.Ser2648Arg
ENST00000530893.7:c.7575C>G	ENSP00000499438.2:p.Ser2525Arg
ENST00000665585.2:c.7944C>G	ENSP00000499570.2:p.Ser2648Arg
ENST00000666593.2:c.7944C>G	ENSP00000499256.2:p.Ser2648Arg
ENST00000700202.2:c.7944C>G	ENSP00000514856.2:p.Ser2648Arg
ENST00000700202.1:c.411C>G	ENSP00000514856.1:p.Ser137Arg
ENST00000380152.8:c.7944C>G MANE Select	ENSP00000369497.3:p.Ser2648Arg
ENST00000544455.6:c.7944C>G	ENSP00000439902.1:p.Ser2648Arg
ENST00000614259.2:c.7952C>G	ENSP00000506251.1:n.7952C>G
ENST00000665585.1:c.509C>G
ENST00000680887.1:c.7944C>G	ENSP00000505508.1:p.Ser2648Arg
ENST00000380152.7:c.7944C>G	ENSP00000369497.3:p.Ser2648Arg
ENST00000544455.5:c.7944C>G	ENSP00000439902.1:p.Ser2648Arg
NM_000059.3:c.7944C>G , LRG_293t1:c.7944C>G	NP_000050.2:p.Ser2648Arg
XM_011535203.1:c.7944C>G	XP_011533505.1:p.Ser2648Arg
XM_011535204.1:c.7848C>G	XP_011533506.1:p.Ser2616Arg
XM_011535205.1:c.7944C>G	XP_011533507.1:p.Ser2648Arg
NM_000059.4:c.7944C>G MANE Select	NP_000050.3:p.Ser2648Arg