Canonical Allele Identifier: CA483439932

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 2103517
• ClinVar RCV Id: RCV003022192
• dbSNP Id: rs2137663122
• gnomAD v4: 13-32398227-G-A
• MyVariant Identifiers: chr13:g.32972364G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32398227G>A , CM000675.2:g.32398227G>A	GRCh38
NC_000013.10:g.32972364G>A , CM000675.1:g.32972364G>A	GRCh37
NC_000013.9:g.31870364G>A	NCBI36
NG_012772.3:g.87748G>A , LRG_293:g.87748G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.*237G>A	ENSP00000434898.2:n.*237G>A
ENST00000528762.2:c.*1081G>A	ENSP00000433168.2:n.*1081G>A
ENST00000530893.7:c.9345G>A	ENSP00000499438.2:p.Lys3115=
ENST00000665585.2:c.*1276G>A	ENSP00000499570.2:n.*1276G>A
ENST00000700202.2:c.9663G>A	ENSP00000514856.2:p.Lys3221=
ENST00000700202.1:c.2130G>A	ENSP00000514856.1:p.Lys710=
ENST00000700203.1:n.1841G>A
ENST00000380152.8:c.9714G>A MANE Select	ENSP00000369497.3:p.Lys3238=
ENST00000544455.6:c.9714G>A	ENSP00000439902.1:p.Lys3238=
ENST00000614259.2:c.9722G>A	ENSP00000506251.1:n.9722G>A
ENST00000665585.1:c.2592G>A
ENST00000680887.1:c.9714G>A	ENSP00000505508.1:p.Lys3238=
ENST00000380152.7:c.9714G>A	ENSP00000369497.3:p.Lys3238=
ENST00000470094.1:c.797G>A
ENST00000533776.1:n.302G>A
ENST00000544455.5:c.9714G>A	ENSP00000439902.1:p.Lys3238=
NM_000059.3:c.9714G>A , LRG_293t1:c.9714G>A	NP_000050.2:p.Lys3238=
XM_011535203.1:c.9714G>A	XP_011533505.1:p.Lys3238=
XM_011535204.1:c.9618G>A	XP_011533506.1:p.Lys3206=
NM_000059.4:c.9714G>A MANE Select	NP_000050.3:p.Lys3238=