Canonical Allele Identifier: CA387766370

Gene: BRCA2

Linked Data

• MyVariant Identifiers: chr13:g.32972485T>G (hg19) ; chr13:g.32398348T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32398348T>G , CM000675.2:g.32398348T>G	GRCh38
NC_000013.10:g.32972485T>G , CM000675.1:g.32972485T>G	GRCh37
NC_000013.9:g.31870485T>G	NCBI36
NG_012772.3:g.87869T>G , LRG_293:g.87869T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.*358T>G	ENSP00000434898.2:n.*358T>G
ENST00000528762.2:c.*1202T>G	ENSP00000433168.2:n.*1202T>G
ENST00000530893.7:c.9466T>G	ENSP00000499438.2:p.Leu3156Val
ENST00000665585.2:c.*1397T>G	ENSP00000499570.2:n.*1397T>G
ENST00000700202.2:c.9784T>G	ENSP00000514856.2:p.Leu3262Val
ENST00000700202.1:c.2251T>G	ENSP00000514856.1:p.Leu751Val
ENST00000700203.1:n.1962T>G
ENST00000380152.8:c.9835T>G MANE Select	ENSP00000369497.3:p.Leu3279Val
ENST00000544455.6:c.9835T>G	ENSP00000439902.1:p.Leu3279Val
ENST00000614259.2:c.9843T>G	ENSP00000506251.1:n.9843T>G
ENST00000680887.1:c.9835T>G	ENSP00000505508.1:p.Leu3279Val
ENST00000380152.7:c.9835T>G	ENSP00000369497.3:p.Leu3279Val
ENST00000533776.1:n.423T>G
ENST00000544455.5:c.9835T>G	ENSP00000439902.1:p.Leu3279Val
NM_000059.3:c.9835T>G , LRG_293t1:c.9835T>G	NP_000050.2:p.Leu3279Val
XM_011535203.1:c.9835T>G	XP_011533505.1:p.Leu3279Val
XM_011535204.1:c.9739T>G	XP_011533506.1:p.Leu3247Val
NM_000059.4:c.9835T>G MANE Select	NP_000050.3:p.Leu3279Val