Canonical Allele Identifier: CA16613980

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 409518
• ClinVar RCV Id: RCV000461156
• dbSNP Id: rs1060502446
• MyVariant Identifiers: chr13:g.32972331A>G (hg19) ; chr13:g.32398194A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32398194A>G , CM000675.2:g.32398194A>G	GRCh38
NC_000013.10:g.32972331A>G , CM000675.1:g.32972331A>G	GRCh37
NC_000013.9:g.31870331A>G	NCBI36
NG_012772.3:g.87715A>G , LRG_293:g.87715A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.*204A>G	ENSP00000434898.2:n.*204A>G
ENST00000528762.2:c.*1048A>G	ENSP00000433168.2:n.*1048A>G
ENST00000530893.7:c.9312A>G	ENSP00000499438.2:p.Gln3104=
ENST00000665585.2:c.*1243A>G	ENSP00000499570.2:n.*1243A>G
ENST00000700202.2:c.9630A>G	ENSP00000514856.2:p.Gln3210=
ENST00000700202.1:c.2097A>G	ENSP00000514856.1:p.Gln699=
ENST00000700203.1:n.1808A>G
ENST00000380152.8:c.9681A>G MANE Select	ENSP00000369497.3:p.Gln3227=
ENST00000544455.6:c.9681A>G	ENSP00000439902.1:p.Gln3227=
ENST00000614259.2:c.9689A>G	ENSP00000506251.1:n.9689A>G
ENST00000665585.1:c.2559A>G
ENST00000680887.1:c.9681A>G	ENSP00000505508.1:p.Gln3227=
ENST00000380152.7:c.9681A>G	ENSP00000369497.3:p.Gln3227=
ENST00000470094.1:c.764A>G
ENST00000533776.1:n.269A>G
ENST00000544455.5:c.9681A>G	ENSP00000439902.1:p.Gln3227=
NM_000059.3:c.9681A>G , LRG_293t1:c.9681A>G	NP_000050.2:p.Gln3227=
XM_011535203.1:c.9681A>G	XP_011533505.1:p.Gln3227=
XM_011535204.1:c.9585A>G	XP_011533506.1:p.Gln3195=
NM_000059.4:c.9681A>G MANE Select	NP_000050.3:p.Gln3227=