Canonical Allele Identifier: CA387767934

Gene: BRCA2

Linked Data

• MyVariant Identifiers: chr13:g.32972732A>T (hg19) ; chr13:g.32398595A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32398595A>T , CM000675.2:g.32398595A>T	GRCh38
NC_000013.10:g.32972732A>T , CM000675.1:g.32972732A>T	GRCh37
NC_000013.9:g.31870732A>T	NCBI36
NG_012772.3:g.88116A>T , LRG_293:g.88116A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.*605A>T	ENSP00000434898.2:n.*605A>T
ENST00000528762.2:c.*1449A>T	ENSP00000433168.2:n.*1449A>T
ENST00000530893.7:c.9713A>T	ENSP00000499438.2:p.Gln3238Leu
ENST00000665585.2:c.*1644A>T	ENSP00000499570.2:n.*1644A>T
ENST00000700202.2:c.10031A>T	ENSP00000514856.2:p.Gln3344Leu
ENST00000700202.1:c.2498A>T	ENSP00000514856.1:p.Gln833Leu
ENST00000700203.1:n.2209A>T
ENST00000380152.8:c.10082A>T MANE Select	ENSP00000369497.3:p.Gln3361Leu
ENST00000544455.6:c.10082A>T	ENSP00000439902.1:p.Gln3361Leu
ENST00000614259.2:c.10090A>T	ENSP00000506251.1:n.10090A>T
ENST00000680887.1:c.10082A>T	ENSP00000505508.1:p.Gln3361Leu
ENST00000380152.7:c.10082A>T	ENSP00000369497.3:p.Gln3361Leu
ENST00000544455.5:c.10082A>T	ENSP00000439902.1:p.Gln3361Leu
NM_000059.3:c.10082A>T , LRG_293t1:c.10082A>T	NP_000050.2:p.Gln3361Leu
XM_011535203.1:c.10082A>T	XP_011533505.1:p.Gln3361Leu
XM_011535204.1:c.9986A>T	XP_011533506.1:p.Gln3329Leu
NM_000059.4:c.10082A>T MANE Select	NP_000050.3:p.Gln3361Leu