Canonical Allele Identifier: CA387767958

Gene: BRCA2

Linked Data

• MyVariant Identifiers: chr13:g.32972738T>G (hg19) ; chr13:g.32398601T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32398601T>G , CM000675.2:g.32398601T>G	GRCh38
NC_000013.10:g.32972738T>G , CM000675.1:g.32972738T>G	GRCh37
NC_000013.9:g.31870738T>G	NCBI36
NG_012772.3:g.88122T>G , LRG_293:g.88122T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.*611T>G	ENSP00000434898.2:n.*611T>G
ENST00000528762.2:c.*1455T>G	ENSP00000433168.2:n.*1455T>G
ENST00000530893.7:c.9719T>G	ENSP00000499438.2:p.Ile3240Arg
ENST00000665585.2:c.*1650T>G	ENSP00000499570.2:n.*1650T>G
ENST00000700202.2:c.10037T>G	ENSP00000514856.2:p.Ile3346Arg
ENST00000700202.1:c.2504T>G	ENSP00000514856.1:p.Ile835Arg
ENST00000700203.1:n.2215T>G
ENST00000380152.8:c.10088T>G MANE Select	ENSP00000369497.3:p.Ile3363Arg
ENST00000544455.6:c.10088T>G	ENSP00000439902.1:p.Ile3363Arg
ENST00000614259.2:c.10096T>G	ENSP00000506251.1:n.10096T>G
ENST00000680887.1:c.10088T>G	ENSP00000505508.1:p.Ile3363Arg
ENST00000380152.7:c.10088T>G	ENSP00000369497.3:p.Ile3363Arg
ENST00000544455.5:c.10088T>G	ENSP00000439902.1:p.Ile3363Arg
NM_000059.3:c.10088T>G , LRG_293t1:c.10088T>G	NP_000050.2:p.Ile3363Arg
XM_011535203.1:c.10088T>G	XP_011533505.1:p.Ile3363Arg
XM_011535204.1:c.9992T>G	XP_011533506.1:p.Ile3331Arg
NM_000059.4:c.10088T>G MANE Select	NP_000050.3:p.Ile3363Arg