Canonical Allele Identifier: CA387761136

Gene: BRCA2

Linked Data

• dbSNP Id: rs2137653089
• MyVariant Identifiers: chr13:g.32968927A>T (hg19) ; chr13:g.32394790A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32394790A>T , CM000675.2:g.32394790A>T	GRCh38
NC_000013.10:g.32968927A>T , CM000675.1:g.32968927A>T	GRCh37
NC_000013.9:g.31866927A>T	NCBI36
NG_012772.3:g.84311A>T , LRG_293:g.84311A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.9358A>T	ENSP00000434898.2:p.Ile3120Phe
ENST00000528762.2:c.*725A>T	ENSP00000433168.2:n.*725A>T
ENST00000530893.7:c.8989A>T	ENSP00000499438.2:p.Ile2997Phe
ENST00000665585.2:c.*920A>T	ENSP00000499570.2:n.*920A>T
ENST00000666593.2:c.*203A>T	ENSP00000499256.2:n.*203A>T
ENST00000700202.2:c.9307A>T	ENSP00000514856.2:p.Ile3103Phe
ENST00000700202.1:c.1774A>T	ENSP00000514856.1:p.Ile592Phe
ENST00000700203.1:n.1485A>T
ENST00000380152.8:c.9358A>T MANE Select	ENSP00000369497.3:p.Ile3120Phe
ENST00000544455.6:c.9358A>T	ENSP00000439902.1:p.Ile3120Phe
ENST00000614259.2:c.9366A>T	ENSP00000506251.1:n.9366A>T
ENST00000665585.1:c.2236A>T
ENST00000666593.1:c.380A>T	ENSP00000499256.1:n.380A>T
ENST00000680887.1:c.9358A>T	ENSP00000505508.1:p.Ile3120Phe
ENST00000380152.7:c.9358A>T	ENSP00000369497.3:p.Ile3120Phe
ENST00000470094.1:c.315A>T
ENST00000544455.5:c.9358A>T	ENSP00000439902.1:p.Ile3120Phe
NM_000059.3:c.9358A>T , LRG_293t1:c.9358A>T	NP_000050.2:p.Ile3120Phe
XM_011535203.1:c.9358A>T	XP_011533505.1:p.Ile3120Phe
XM_011535204.1:c.9262A>T	XP_011533506.1:p.Ile3088Phe
NM_000059.4:c.9358A>T MANE Select	NP_000050.3:p.Ile3120Phe