Canonical Allele Identifier: CA387757481

Gene: BRCA2

Linked Data

• COSMIC: COSM4606084 ; COSM4606085
• MyVariant Identifiers: chr13:g.32953953G>T (hg19) ; chr13:g.32379816G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32379816G>T , CM000675.2:g.32379816G>T	GRCh38
NC_000013.10:g.32953953G>T , CM000675.1:g.32953953G>T	GRCh37
NC_000013.9:g.31851953G>T	NCBI36
NG_012772.3:g.69337G>T , LRG_293:g.69337G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.9020G>T	ENSP00000434898.2:p.Arg3007Ile
ENST00000528762.2:c.*387G>T	ENSP00000433168.2:n.*387G>T
ENST00000530893.7:c.8651G>T	ENSP00000499438.2:p.Arg2884Ile
ENST00000665585.2:c.*582G>T	ENSP00000499570.2:n.*582G>T
ENST00000666593.2:c.9020G>T	ENSP00000499256.2:p.Arg3007Ile
ENST00000700202.2:c.8969G>T	ENSP00000514856.2:p.Arg2990Ile
ENST00000700202.1:c.1436G>T	ENSP00000514856.1:p.Arg479Ile
ENST00000700203.1:n.1147G>T
ENST00000380152.8:c.9020G>T MANE Select	ENSP00000369497.3:p.Arg3007Ile
ENST00000544455.6:c.9020G>T	ENSP00000439902.1:p.Arg3007Ile
ENST00000614259.2:c.9028G>T	ENSP00000506251.1:n.9028G>T
ENST00000665585.1:c.1898G>T
ENST00000680887.1:c.9020G>T	ENSP00000505508.1:p.Arg3007Ile
ENST00000380152.7:c.9020G>T	ENSP00000369497.3:p.Arg3007Ile
ENST00000544455.5:c.9020G>T	ENSP00000439902.1:p.Arg3007Ile
NM_000059.3:c.9020G>T , LRG_293t1:c.9020G>T	NP_000050.2:p.Arg3007Ile
XM_011535203.1:c.9020G>T	XP_011533505.1:p.Arg3007Ile
XM_011535204.1:c.8924G>T	XP_011533506.1:p.Arg2975Ile
XM_011535205.1:c.*58G>T	XP_011533507.1:n.*58G>T
NM_000059.4:c.9020G>T MANE Select	NP_000050.3:p.Arg3007Ile