Canonical Allele Identifier: CA6941455

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 3230222
• ClinVar RCV Id: RCV004520373
• dbSNP Id: rs762145450
• ExAC: 13:32972566 A / G
• gnomAD v2: 13-32972566-A-G
• gnomAD v3: 13-32398429-A-G
• gnomAD v4: 13-32398429-A-G
• MyVariant Identifiers: chr13:g.32972566A>G (hg19) ; chr13:g.32398429A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32398429A>G , CM000675.2:g.32398429A>G	GRCh38
NC_000013.10:g.32972566A>G , CM000675.1:g.32972566A>G	GRCh37
NC_000013.9:g.31870566A>G	NCBI36
NG_012772.3:g.87950A>G , LRG_293:g.87950A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.*439A>G	ENSP00000434898.2:n.*439A>G
ENST00000528762.2:c.*1283A>G	ENSP00000433168.2:n.*1283A>G
ENST00000530893.7:c.9547A>G	ENSP00000499438.2:p.Thr3183Ala
ENST00000665585.2:c.*1478A>G	ENSP00000499570.2:n.*1478A>G
ENST00000700202.2:c.9865A>G	ENSP00000514856.2:p.Thr3289Ala
ENST00000700202.1:c.2332A>G	ENSP00000514856.1:p.Thr778Ala
ENST00000700203.1:n.2043A>G
ENST00000380152.8:c.9916A>G MANE Select	ENSP00000369497.3:p.Thr3306Ala
ENST00000544455.6:c.9916A>G	ENSP00000439902.1:p.Thr3306Ala
ENST00000614259.2:c.9924A>G	ENSP00000506251.1:n.9924A>G
ENST00000680887.1:c.9916A>G	ENSP00000505508.1:p.Thr3306Ala
ENST00000380152.7:c.9916A>G	ENSP00000369497.3:p.Thr3306Ala
ENST00000533776.1:n.504A>G
ENST00000544455.5:c.9916A>G	ENSP00000439902.1:p.Thr3306Ala
NM_000059.3:c.9916A>G , LRG_293t1:c.9916A>G	NP_000050.2:p.Thr3306Ala
XM_011535203.1:c.9916A>G	XP_011533505.1:p.Thr3306Ala
XM_011535204.1:c.9820A>G	XP_011533506.1:p.Thr3274Ala
NM_000059.4:c.9916A>G MANE Select	NP_000050.3:p.Thr3306Ala