Canonical Allele Identifier: CA483439894

Gene: BRCA2

Linked Data

• MyVariant Identifiers: chr13:g.32954045C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32379908C>T , CM000675.2:g.32379908C>T	GRCh38
NC_000013.10:g.32954045C>T , CM000675.1:g.32954045C>T	GRCh37
NC_000013.9:g.31852045C>T	NCBI36
NG_012772.3:g.69429C>T , LRG_293:g.69429C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.9112C>T	ENSP00000434898.2:p.Leu3038=
ENST00000528762.2:c.*479C>T	ENSP00000433168.2:n.*479C>T
ENST00000530893.7:c.8743C>T	ENSP00000499438.2:p.Leu2915=
ENST00000665585.2:c.*674C>T	ENSP00000499570.2:n.*674C>T
ENST00000666593.2:c.9112C>T	ENSP00000499256.2:p.Leu3038=
ENST00000700202.2:c.9061C>T	ENSP00000514856.2:p.Leu3021=
ENST00000700202.1:c.1528C>T	ENSP00000514856.1:p.Leu510=
ENST00000700203.1:n.1239C>T
ENST00000380152.8:c.9112C>T MANE Select	ENSP00000369497.3:p.Leu3038=
ENST00000544455.6:c.9112C>T	ENSP00000439902.1:p.Leu3038=
ENST00000614259.2:c.9120C>T	ENSP00000506251.1:n.9120C>T
ENST00000665585.1:c.1990C>T
ENST00000680887.1:c.9112C>T	ENSP00000505508.1:p.Leu3038=
ENST00000380152.7:c.9112C>T	ENSP00000369497.3:p.Leu3038=
ENST00000470094.1:c.69C>T
ENST00000544455.5:c.9112C>T	ENSP00000439902.1:p.Leu3038=
NM_000059.3:c.9112C>T , LRG_293t1:c.9112C>T	NP_000050.2:p.Leu3038=
XM_011535203.1:c.9112C>T	XP_011533505.1:p.Leu3038=
XM_011535204.1:c.9016C>T	XP_011533506.1:p.Leu3006=
NM_000059.4:c.9112C>T MANE Select	NP_000050.3:p.Leu3038=