Canonical Allele Identifier: CA025997

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 38216
• ClinVar RCV Id: RCV000031799 ; RCV000439624 ; RCV001423115
• dbSNP Id: rs81002890
• gnomAD v4: 13-32380001-C-T
• MyVariant Identifiers: chr13:g.32954138C>T (hg19) ; chr13:g.32380001C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32380001C>T , CM000675.2:g.32380001C>T	GRCh38
NC_000013.10:g.32954138C>T , CM000675.1:g.32954138C>T	GRCh37
NC_000013.9:g.31852138C>T	NCBI36
NG_012772.3:g.69522C>T , LRG_293:g.69522C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.9118-6C>T	ENSP00000434898.2:n.9118-6C>T
ENST00000528762.2:c.*485-6C>T	ENSP00000433168.2:n.*485-6C>T
ENST00000530893.7:c.8749-6C>T	ENSP00000499438.2:n.8749-6C>T
ENST00000665585.2:c.*680-6C>T	ENSP00000499570.2:n.*680-6C>T
ENST00000666593.2:c.9118-6C>T	ENSP00000499256.2:n.9118-6C>T
ENST00000700202.2:c.9067-6C>T	ENSP00000514856.2:n.9067-6C>T
ENST00000700202.1:c.1534-6C>T	ENSP00000514856.1:n.1534-6C>T
ENST00000700203.1:n.1245-6C>T
ENST00000380152.8:c.9118-6C>T MANE Select	ENSP00000369497.3:n.9118-6C>T
ENST00000544455.6:c.9118-6C>T	ENSP00000439902.1:n.9118-6C>T
ENST00000614259.2:c.9126-6C>T	ENSP00000506251.1:n.9126-6C>T
ENST00000665585.1:c.1996-6C>T
ENST00000680887.1:c.9118-6C>T	ENSP00000505508.1:n.9118-6C>T
ENST00000380152.7:c.9118-6C>T	ENSP00000369497.3:n.9118-6C>T
ENST00000470094.1:c.75-6C>T
ENST00000544455.5:c.9118-6C>T	ENSP00000439902.1:n.9118-6C>T
NM_000059.3:c.9118-6C>T , LRG_293t1:c.9118-6C>T	NP_000050.2:n.9118-6C>T
XM_011535203.1:c.9118-6C>T	XP_011533505.1:n.9118-6C>T
XM_011535204.1:c.9022-6C>T	XP_011533506.1:n.9022-6C>T
NM_000059.4:c.9118-6C>T MANE Select	NP_000050.3:n.9118-6C>T