Canonical Allele Identifier: CA387767352

Gene: BRCA2

Linked Data

• dbSNP Id: rs2137665313
• MyVariant Identifiers: chr13:g.32972604T>G (hg19) ; chr13:g.32398467T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32398467T>G , CM000675.2:g.32398467T>G	GRCh38
NC_000013.10:g.32972604T>G , CM000675.1:g.32972604T>G	GRCh37
NC_000013.9:g.31870604T>G	NCBI36
NG_012772.3:g.87988T>G , LRG_293:g.87988T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.*477T>G	ENSP00000434898.2:n.*477T>G
ENST00000528762.2:c.*1321T>G	ENSP00000433168.2:n.*1321T>G
ENST00000530893.7:c.9585T>G	ENSP00000499438.2:p.Asn3195Lys
ENST00000665585.2:c.*1516T>G	ENSP00000499570.2:n.*1516T>G
ENST00000700202.2:c.9903T>G	ENSP00000514856.2:p.Asn3301Lys
ENST00000700202.1:c.2370T>G	ENSP00000514856.1:p.Asn790Lys
ENST00000700203.1:n.2081T>G
ENST00000380152.8:c.9954T>G MANE Select	ENSP00000369497.3:p.Asn3318Lys
ENST00000544455.6:c.9954T>G	ENSP00000439902.1:p.Asn3318Lys
ENST00000614259.2:c.9962T>G	ENSP00000506251.1:n.9962T>G
ENST00000680887.1:c.9954T>G	ENSP00000505508.1:p.Asn3318Lys
ENST00000380152.7:c.9954T>G	ENSP00000369497.3:p.Asn3318Lys
ENST00000544455.5:c.9954T>G	ENSP00000439902.1:p.Asn3318Lys
NM_000059.3:c.9954T>G , LRG_293t1:c.9954T>G	NP_000050.2:p.Asn3318Lys
XM_011535203.1:c.9954T>G	XP_011533505.1:p.Asn3318Lys
XM_011535204.1:c.9858T>G	XP_011533506.1:p.Asn3286Lys
NM_000059.4:c.9954T>G MANE Select	NP_000050.3:p.Asn3318Lys