Canonical Allele Identifier: CA387763305

Gene: BRCA2

Linked Data

• MyVariant Identifiers: chr13:g.32971099C>A (hg19) ; chr13:g.32396962C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32396962C>A , CM000675.2:g.32396962C>A	GRCh38
NC_000013.10:g.32971099C>A , CM000675.1:g.32971099C>A	GRCh37
NC_000013.9:g.31869099C>A	NCBI36
NG_012772.3:g.86483C>A , LRG_293:g.86483C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.*89C>A	ENSP00000434898.2:n.*89C>A
ENST00000528762.2:c.*933C>A	ENSP00000433168.2:n.*933C>A
ENST00000530893.7:c.9197C>A	ENSP00000499438.2:p.Pro3066His
ENST00000665585.2:c.*1128C>A	ENSP00000499570.2:n.*1128C>A
ENST00000700202.2:c.9515C>A	ENSP00000514856.2:p.Pro3172His
ENST00000700202.1:c.1982C>A	ENSP00000514856.1:p.Pro661His
ENST00000700203.1:n.1693C>A
ENST00000380152.8:c.9566C>A MANE Select	ENSP00000369497.3:p.Pro3189His
ENST00000544455.6:c.9566C>A	ENSP00000439902.1:p.Pro3189His
ENST00000614259.2:c.9574C>A	ENSP00000506251.1:n.9574C>A
ENST00000665585.1:c.2444C>A
ENST00000680887.1:c.9566C>A	ENSP00000505508.1:p.Pro3189His
ENST00000380152.7:c.9566C>A	ENSP00000369497.3:p.Pro3189His
ENST00000470094.1:c.649C>A
ENST00000533776.1:n.154C>A
ENST00000544455.5:c.9566C>A	ENSP00000439902.1:p.Pro3189His
NM_000059.3:c.9566C>A , LRG_293t1:c.9566C>A	NP_000050.2:p.Pro3189His
XM_011535203.1:c.9566C>A	XP_011533505.1:p.Pro3189His
XM_011535204.1:c.9470C>A	XP_011533506.1:p.Pro3157His
NM_000059.4:c.9566C>A MANE Select	NP_000050.3:p.Pro3189His