Canonical Allele Identifier: CA387765653

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 633108
• ClinVar RCV Id: RCV002535688 ; RCV003478483
• dbSNP Id: rs1173590589
• gnomAD v4: 13-32398261-T-A
• MyVariant Identifiers: chr13:g.32972398T>A (hg19) ; chr13:g.32398261T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32398261T>A , CM000675.2:g.32398261T>A	GRCh38
NC_000013.10:g.32972398T>A , CM000675.1:g.32972398T>A	GRCh37
NC_000013.9:g.31870398T>A	NCBI36
NG_012772.3:g.87782T>A , LRG_293:g.87782T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000470094.2:c.*271T>A	ENSP00000434898.2:n.*271T>A
ENST00000528762.2:c.*1115T>A	ENSP00000433168.2:n.*1115T>A
ENST00000530893.7:c.9379T>A	ENSP00000499438.2:p.Ser3127Thr
ENST00000665585.2:c.*1310T>A	ENSP00000499570.2:n.*1310T>A
ENST00000700202.2:c.9697T>A	ENSP00000514856.2:p.Ser3233Thr
ENST00000700202.1:c.2164T>A	ENSP00000514856.1:p.Ser722Thr
ENST00000700203.1:n.1875T>A
ENST00000380152.8:c.9748T>A MANE Select	ENSP00000369497.3:p.Ser3250Thr
ENST00000544455.6:c.9748T>A	ENSP00000439902.1:p.Ser3250Thr
ENST00000614259.2:c.9756T>A	ENSP00000506251.1:n.9756T>A
ENST00000680887.1:c.9748T>A	ENSP00000505508.1:p.Ser3250Thr
ENST00000380152.7:c.9748T>A	ENSP00000369497.3:p.Ser3250Thr
ENST00000470094.1:c.831T>A
ENST00000533776.1:n.336T>A
ENST00000544455.5:c.9748T>A	ENSP00000439902.1:p.Ser3250Thr
NM_000059.3:c.9748T>A , LRG_293t1:c.9748T>A	NP_000050.2:p.Ser3250Thr
XM_011535203.1:c.9748T>A	XP_011533505.1:p.Ser3250Thr
XM_011535204.1:c.9652T>A	XP_011533506.1:p.Ser3218Thr
NM_000059.4:c.9748T>A MANE Select	NP_000050.3:p.Ser3250Thr