Canonical Allele Identifier: CA387755858

Gene: BRCA2

Linked Data

• dbSNP Id: rs1316473862
• MyVariant Identifiers: chr13:g.32953480A>T (hg19) ; chr13:g.32379343A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32379343A>T , CM000675.2:g.32379343A>T	GRCh38
NC_000013.10:g.32953480A>T , CM000675.1:g.32953480A>T	GRCh37
NC_000013.9:g.31851480A>T	NCBI36
NG_012772.3:g.68864A>T , LRG_293:g.68864A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.8781A>T	ENSP00000434898.2:p.Arg2927Ser
ENST00000528762.2:c.*148A>T	ENSP00000433168.2:n.*148A>T
ENST00000530893.7:c.8412A>T	ENSP00000499438.2:p.Arg2804Ser
ENST00000665585.2:c.*343A>T	ENSP00000499570.2:n.*343A>T
ENST00000666593.2:c.8781A>T	ENSP00000499256.2:p.Arg2927Ser
ENST00000700202.2:c.8781A>T	ENSP00000514856.2:p.Arg2927Ser
ENST00000700202.1:c.1248A>T	ENSP00000514856.1:p.Arg416Ser
ENST00000700203.1:n.908A>T
ENST00000380152.8:c.8781A>T MANE Select	ENSP00000369497.3:p.Arg2927Ser
ENST00000544455.6:c.8781A>T	ENSP00000439902.1:p.Arg2927Ser
ENST00000614259.2:c.8789A>T	ENSP00000506251.1:n.8789A>T
ENST00000665585.1:c.1659A>T
ENST00000680887.1:c.8781A>T	ENSP00000505508.1:p.Arg2927Ser
ENST00000380152.7:c.8781A>T	ENSP00000369497.3:p.Arg2927Ser
ENST00000528762.1:c.343A>T	ENSP00000433168.1:n.343A>T
ENST00000544455.5:c.8781A>T	ENSP00000439902.1:p.Arg2927Ser
NM_000059.3:c.8781A>T , LRG_293t1:c.8781A>T	NP_000050.2:p.Arg2927Ser
XM_011535203.1:c.8781A>T	XP_011533505.1:p.Arg2927Ser
XM_011535204.1:c.8685A>T	XP_011533506.1:p.Arg2895Ser
XM_011535205.1:c.8755-407A>T	XP_011533507.1:n.8755-407A>T
NM_000059.4:c.8781A>T MANE Select	NP_000050.3:p.Arg2927Ser