Canonical Allele Identifier: CA387760892

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 573951
• ClinVar RCV Id: RCV002369890
• dbSNP Id: rs28897758
• gnomAD v3: 13-32394734-T-A
• gnomAD v4: 13-32394734-T-A
• MyVariant Identifiers: chr13:g.32968871T>A (hg19) ; chr13:g.32394734T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32394734T>A , CM000675.2:g.32394734T>A	GRCh38
NC_000013.10:g.32968871T>A , CM000675.1:g.32968871T>A	GRCh37
NC_000013.9:g.31866871T>A	NCBI36
NG_012772.3:g.84255T>A , LRG_293:g.84255T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000470094.2:c.9302T>A	ENSP00000434898.2:p.Leu3101Gln
ENST00000528762.2:c.*669T>A	ENSP00000433168.2:n.*669T>A
ENST00000530893.7:c.8933T>A	ENSP00000499438.2:p.Leu2978Gln
ENST00000665585.2:c.*864T>A	ENSP00000499570.2:n.*864T>A
ENST00000666593.2:c.*147T>A	ENSP00000499256.2:n.*147T>A
ENST00000700202.2:c.9251T>A	ENSP00000514856.2:p.Leu3084Gln
ENST00000700202.1:c.1718T>A	ENSP00000514856.1:p.Leu573Gln
ENST00000700203.1:n.1429T>A
ENST00000380152.8:c.9302T>A MANE Select	ENSP00000369497.3:p.Leu3101Gln
ENST00000544455.6:c.9302T>A	ENSP00000439902.1:p.Leu3101Gln
ENST00000614259.2:c.9310T>A	ENSP00000506251.1:n.9310T>A
ENST00000665585.1:c.2180T>A
ENST00000666593.1:c.324T>A	ENSP00000499256.1:n.324T>A
ENST00000680887.1:c.9302T>A	ENSP00000505508.1:p.Leu3101Gln
ENST00000380152.7:c.9302T>A	ENSP00000369497.3:p.Leu3101Gln
ENST00000470094.1:c.259T>A
ENST00000544455.5:c.9302T>A	ENSP00000439902.1:p.Leu3101Gln
NM_000059.3:c.9302T>A , LRG_293t1:c.9302T>A	NP_000050.2:p.Leu3101Gln
XM_011535203.1:c.9302T>A	XP_011533505.1:p.Leu3101Gln
XM_011535204.1:c.9206T>A	XP_011533506.1:p.Leu3069Gln
NM_000059.4:c.9302T>A MANE Select	NP_000050.3:p.Leu3101Gln