Canonical Allele Identifier: CA483440226

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 462538
• ClinVar RCV Id: RCV000547618
• dbSNP Id: rs1404813815
• gnomAD v2: 13-32972535-G-A
• gnomAD v3: 13-32398398-G-A
• gnomAD v4: 13-32398398-G-A
• MyVariant Identifiers: chr13:g.32972535G>A (hg19) ; chr13:g.32398398G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32398398G>A , CM000675.2:g.32398398G>A	GRCh38
NC_000013.10:g.32972535G>A , CM000675.1:g.32972535G>A	GRCh37
NC_000013.9:g.31870535G>A	NCBI36
NG_012772.3:g.87919G>A , LRG_293:g.87919G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000470094.2:c.*408G>A	ENSP00000434898.2:n.*408G>A
ENST00000528762.2:c.*1252G>A	ENSP00000433168.2:n.*1252G>A
ENST00000530893.7:c.9516G>A	ENSP00000499438.2:p.Gln3172=
ENST00000665585.2:c.*1447G>A	ENSP00000499570.2:n.*1447G>A
ENST00000700202.2:c.9834G>A	ENSP00000514856.2:p.Gln3278=
ENST00000700202.1:c.2301G>A	ENSP00000514856.1:p.Gln767=
ENST00000700203.1:n.2012G>A
ENST00000380152.8:c.9885G>A MANE Select	ENSP00000369497.3:p.Gln3295=
ENST00000544455.6:c.9885G>A	ENSP00000439902.1:p.Gln3295=
ENST00000614259.2:c.9893G>A	ENSP00000506251.1:n.9893G>A
ENST00000680887.1:c.9885G>A	ENSP00000505508.1:p.Gln3295=
ENST00000380152.7:c.9885G>A	ENSP00000369497.3:p.Gln3295=
ENST00000533776.1:n.473G>A
ENST00000544455.5:c.9885G>A	ENSP00000439902.1:p.Gln3295=
NM_000059.3:c.9885G>A , LRG_293t1:c.9885G>A	NP_000050.2:p.Gln3295=
XM_011535203.1:c.9885G>A	XP_011533505.1:p.Gln3295=
XM_011535204.1:c.9789G>A	XP_011533506.1:p.Gln3263=
NM_000059.4:c.9885G>A MANE Select	NP_000050.3:p.Gln3295=