Canonical Allele Identifier: CA387767706

Gene: BRCA2

Linked Data

• dbSNP Id: rs2137665729
• MyVariant Identifiers: chr13:g.32972661T>G (hg19) ; chr13:g.32398524T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32398524T>G , CM000675.2:g.32398524T>G	GRCh38
NC_000013.10:g.32972661T>G , CM000675.1:g.32972661T>G	GRCh37
NC_000013.9:g.31870661T>G	NCBI36
NG_012772.3:g.88045T>G , LRG_293:g.88045T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.*534T>G	ENSP00000434898.2:n.*534T>G
ENST00000528762.2:c.*1378T>G	ENSP00000433168.2:n.*1378T>G
ENST00000530893.7:c.9642T>G	ENSP00000499438.2:p.Asn3214Lys
ENST00000665585.2:c.*1573T>G	ENSP00000499570.2:n.*1573T>G
ENST00000700202.2:c.9960T>G	ENSP00000514856.2:p.Asn3320Lys
ENST00000700202.1:c.2427T>G	ENSP00000514856.1:p.Asn809Lys
ENST00000700203.1:n.2138T>G
ENST00000380152.8:c.10011T>G MANE Select	ENSP00000369497.3:p.Asn3337Lys
ENST00000544455.6:c.10011T>G	ENSP00000439902.1:p.Asn3337Lys
ENST00000614259.2:c.10019T>G	ENSP00000506251.1:n.10019T>G
ENST00000680887.1:c.10011T>G	ENSP00000505508.1:p.Asn3337Lys
ENST00000380152.7:c.10011T>G	ENSP00000369497.3:p.Asn3337Lys
ENST00000544455.5:c.10011T>G	ENSP00000439902.1:p.Asn3337Lys
NM_000059.3:c.10011T>G , LRG_293t1:c.10011T>G	NP_000050.2:p.Asn3337Lys
XM_011535203.1:c.10011T>G	XP_011533505.1:p.Asn3337Lys
XM_011535204.1:c.9915T>G	XP_011533506.1:p.Asn3305Lys
NM_000059.4:c.10011T>G MANE Select	NP_000050.3:p.Asn3337Lys