Canonical Allele Identifier: CA387758611

Gene: BRCA2

Linked Data

• dbSNP Id: rs757824441
• gnomAD v2: 13-32954265-C-T
• gnomAD v4: 13-32380128-C-T
• MyVariant Identifiers: chr13:g.32954265C>T (hg19) ; chr13:g.32380128C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32380128C>T , CM000675.2:g.32380128C>T	GRCh38
NC_000013.10:g.32954265C>T , CM000675.1:g.32954265C>T	GRCh37
NC_000013.9:g.31852265C>T	NCBI36
NG_012772.3:g.69649C>T , LRG_293:g.69649C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.9239C>T	ENSP00000434898.2:p.Ser3080Phe
ENST00000528762.2:c.*606C>T	ENSP00000433168.2:n.*606C>T
ENST00000530893.7:c.8870C>T	ENSP00000499438.2:p.Ser2957Phe
ENST00000665585.2:c.*801C>T	ENSP00000499570.2:n.*801C>T
ENST00000666593.2:c.9239C>T	ENSP00000499256.2:p.Ser3080Phe
ENST00000700202.2:c.9188C>T	ENSP00000514856.2:p.Ser3063Phe
ENST00000700202.1:c.1655C>T	ENSP00000514856.1:p.Ser552Phe
ENST00000700203.1:n.1366C>T
ENST00000380152.8:c.9239C>T MANE Select	ENSP00000369497.3:p.Ser3080Phe
ENST00000544455.6:c.9239C>T	ENSP00000439902.1:p.Ser3080Phe
ENST00000614259.2:c.9247C>T	ENSP00000506251.1:n.9247C>T
ENST00000665585.1:c.2117C>T
ENST00000666593.1:c.122C>T	ENSP00000499256.1:p.Ser41Phe
ENST00000680887.1:c.9239C>T	ENSP00000505508.1:p.Ser3080Phe
ENST00000380152.7:c.9239C>T	ENSP00000369497.3:p.Ser3080Phe
ENST00000470094.1:c.196C>T
ENST00000544455.5:c.9239C>T	ENSP00000439902.1:p.Ser3080Phe
NM_000059.3:c.9239C>T , LRG_293t1:c.9239C>T	NP_000050.2:p.Ser3080Phe
XM_011535203.1:c.9239C>T	XP_011533505.1:p.Ser3080Phe
XM_011535204.1:c.9143C>T	XP_011533506.1:p.Ser3048Phe
NM_000059.4:c.9239C>T MANE Select	NP_000050.3:p.Ser3080Phe