Canonical Allele Identifier: CA387757361

Gene: BRCA2

Linked Data

• dbSNP Id: rs758549281
• MyVariant Identifiers: chr13:g.32953889A>T (hg19) ; chr13:g.32379752A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32379752A>T , CM000675.2:g.32379752A>T	GRCh38
NC_000013.10:g.32953889A>T , CM000675.1:g.32953889A>T	GRCh37
NC_000013.9:g.31851889A>T	NCBI36
NG_012772.3:g.69273A>T , LRG_293:g.69273A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.8956A>T	ENSP00000434898.2:p.Ile2986Leu
ENST00000528762.2:c.*323A>T	ENSP00000433168.2:n.*323A>T
ENST00000530893.7:c.8587A>T	ENSP00000499438.2:p.Ile2863Leu
ENST00000665585.2:c.*518A>T	ENSP00000499570.2:n.*518A>T
ENST00000666593.2:c.8956A>T	ENSP00000499256.2:p.Ile2986Leu
ENST00000700202.2:c.8954-49A>T	ENSP00000514856.2:n.8954-49A>T
ENST00000700202.1:c.1421-49A>T	ENSP00000514856.1:n.1421-49A>T
ENST00000700203.1:n.1083A>T
ENST00000380152.8:c.8956A>T MANE Select	ENSP00000369497.3:p.Ile2986Leu
ENST00000544455.6:c.8956A>T	ENSP00000439902.1:p.Ile2986Leu
ENST00000614259.2:c.8964A>T	ENSP00000506251.1:n.8964A>T
ENST00000665585.1:c.1834A>T
ENST00000680887.1:c.8956A>T	ENSP00000505508.1:p.Ile2986Leu
ENST00000380152.7:c.8956A>T	ENSP00000369497.3:p.Ile2986Leu
ENST00000544455.5:c.8956A>T	ENSP00000439902.1:p.Ile2986Leu
NM_000059.3:c.8956A>T , LRG_293t1:c.8956A>T	NP_000050.2:p.Ile2986Leu
XM_011535203.1:c.8956A>T	XP_011533505.1:p.Ile2986Leu
XM_011535204.1:c.8860A>T	XP_011533506.1:p.Ile2954Leu
XM_011535205.1:c.8757A>T	XP_011533507.1:p.Leu2919Phe
NM_000059.4:c.8956A>T MANE Select	NP_000050.3:p.Ile2986Leu