Canonical Allele Identifier: CA387765756

Gene: BRCA2

Linked Data

• MyVariant Identifiers: chr13:g.32972412A>T (hg19) ; chr13:g.32398275A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32398275A>T , CM000675.2:g.32398275A>T	GRCh38
NC_000013.10:g.32972412A>T , CM000675.1:g.32972412A>T	GRCh37
NC_000013.9:g.31870412A>T	NCBI36
NG_012772.3:g.87796A>T , LRG_293:g.87796A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.*285A>T	ENSP00000434898.2:n.*285A>T
ENST00000528762.2:c.*1129A>T	ENSP00000433168.2:n.*1129A>T
ENST00000530893.7:c.9393A>T	ENSP00000499438.2:p.Lys3131Asn
ENST00000665585.2:c.*1324A>T	ENSP00000499570.2:n.*1324A>T
ENST00000700202.2:c.9711A>T	ENSP00000514856.2:p.Lys3237Asn
ENST00000700202.1:c.2178A>T	ENSP00000514856.1:p.Lys726Asn
ENST00000700203.1:n.1889A>T
ENST00000380152.8:c.9762A>T MANE Select	ENSP00000369497.3:p.Lys3254Asn
ENST00000544455.6:c.9762A>T	ENSP00000439902.1:p.Lys3254Asn
ENST00000614259.2:c.9770A>T	ENSP00000506251.1:n.9770A>T
ENST00000680887.1:c.9762A>T	ENSP00000505508.1:p.Lys3254Asn
ENST00000380152.7:c.9762A>T	ENSP00000369497.3:p.Lys3254Asn
ENST00000533776.1:n.350A>T
ENST00000544455.5:c.9762A>T	ENSP00000439902.1:p.Lys3254Asn
NM_000059.3:c.9762A>T , LRG_293t1:c.9762A>T	NP_000050.2:p.Lys3254Asn
XM_011535203.1:c.9762A>T	XP_011533505.1:p.Lys3254Asn
XM_011535204.1:c.9666A>T	XP_011533506.1:p.Lys3222Asn
NM_000059.4:c.9762A>T MANE Select	NP_000050.3:p.Lys3254Asn