Canonical Allele Identifier: CA387757483

Gene: BRCA2

Linked Data

• MyVariant Identifiers: chr13:g.32953954A>T (hg19) ; chr13:g.32379817A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32379817A>T , CM000675.2:g.32379817A>T	GRCh38
NC_000013.10:g.32953954A>T , CM000675.1:g.32953954A>T	GRCh37
NC_000013.9:g.31851954A>T	NCBI36
NG_012772.3:g.69338A>T , LRG_293:g.69338A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.9021A>T	ENSP00000434898.2:p.Arg3007Ser
ENST00000528762.2:c.*388A>T	ENSP00000433168.2:n.*388A>T
ENST00000530893.7:c.8652A>T	ENSP00000499438.2:p.Arg2884Ser
ENST00000665585.2:c.*583A>T	ENSP00000499570.2:n.*583A>T
ENST00000666593.2:c.9021A>T	ENSP00000499256.2:p.Arg3007Ser
ENST00000700202.2:c.8970A>T	ENSP00000514856.2:p.Arg2990Ser
ENST00000700202.1:c.1437A>T	ENSP00000514856.1:p.Arg479Ser
ENST00000700203.1:n.1148A>T
ENST00000380152.8:c.9021A>T MANE Select	ENSP00000369497.3:p.Arg3007Ser
ENST00000544455.6:c.9021A>T	ENSP00000439902.1:p.Arg3007Ser
ENST00000614259.2:c.9029A>T	ENSP00000506251.1:n.9029A>T
ENST00000665585.1:c.1899A>T
ENST00000680887.1:c.9021A>T	ENSP00000505508.1:p.Arg3007Ser
ENST00000380152.7:c.9021A>T	ENSP00000369497.3:p.Arg3007Ser
ENST00000544455.5:c.9021A>T	ENSP00000439902.1:p.Arg3007Ser
NM_000059.3:c.9021A>T , LRG_293t1:c.9021A>T	NP_000050.2:p.Arg3007Ser
XM_011535203.1:c.9021A>T	XP_011533505.1:p.Arg3007Ser
XM_011535204.1:c.8925A>T	XP_011533506.1:p.Arg2975Ser
XM_011535205.1:c.*59A>T	XP_011533507.1:n.*59A>T
NM_000059.4:c.9021A>T MANE Select	NP_000050.3:p.Arg3007Ser