Canonical Allele Identifier: CA387767794

Gene: BRCA2

Linked Data

• MyVariant Identifiers: chr13:g.32972688G>T (hg19) ; chr13:g.32398551G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32398551G>T , CM000675.2:g.32398551G>T	GRCh38
NC_000013.10:g.32972688G>T , CM000675.1:g.32972688G>T	GRCh37
NC_000013.9:g.31870688G>T	NCBI36
NG_012772.3:g.88072G>T , LRG_293:g.88072G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.*561G>T	ENSP00000434898.2:n.*561G>T
ENST00000528762.2:c.*1405G>T	ENSP00000433168.2:n.*1405G>T
ENST00000530893.7:c.9669G>T	ENSP00000499438.2:p.Leu3223Phe
ENST00000665585.2:c.*1600G>T	ENSP00000499570.2:n.*1600G>T
ENST00000700202.2:c.9987G>T	ENSP00000514856.2:p.Leu3329Phe
ENST00000700202.1:c.2454G>T	ENSP00000514856.1:p.Leu818Phe
ENST00000700203.1:n.2165G>T
ENST00000380152.8:c.10038G>T MANE Select	ENSP00000369497.3:p.Leu3346Phe
ENST00000544455.6:c.10038G>T	ENSP00000439902.1:p.Leu3346Phe
ENST00000614259.2:c.10046G>T	ENSP00000506251.1:n.10046G>T
ENST00000680887.1:c.10038G>T	ENSP00000505508.1:p.Leu3346Phe
ENST00000380152.7:c.10038G>T	ENSP00000369497.3:p.Leu3346Phe
ENST00000544455.5:c.10038G>T	ENSP00000439902.1:p.Leu3346Phe
NM_000059.3:c.10038G>T , LRG_293t1:c.10038G>T	NP_000050.2:p.Leu3346Phe
XM_011535203.1:c.10038G>T	XP_011533505.1:p.Leu3346Phe
XM_011535204.1:c.9942G>T	XP_011533506.1:p.Leu3314Phe
NM_000059.4:c.10038G>T MANE Select	NP_000050.3:p.Leu3346Phe