Canonical Allele Identifier: CA387767642

Gene: BRCA2

Linked Data

• dbSNP Id: rs876658246
• MyVariant Identifiers: chr13:g.32972645C>T (hg19) ; chr13:g.32398508C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32398508C>T , CM000675.2:g.32398508C>T	GRCh38
NC_000013.10:g.32972645C>T , CM000675.1:g.32972645C>T	GRCh37
NC_000013.9:g.31870645C>T	NCBI36
NG_012772.3:g.88029C>T , LRG_293:g.88029C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.*518C>T	ENSP00000434898.2:n.*518C>T
ENST00000528762.2:c.*1362C>T	ENSP00000433168.2:n.*1362C>T
ENST00000530893.7:c.9626C>T	ENSP00000499438.2:p.Ser3209Phe
ENST00000665585.2:c.*1557C>T	ENSP00000499570.2:n.*1557C>T
ENST00000700202.2:c.9944C>T	ENSP00000514856.2:p.Ser3315Phe
ENST00000700202.1:c.2411C>T	ENSP00000514856.1:p.Ser804Phe
ENST00000700203.1:n.2122C>T
ENST00000380152.8:c.9995C>T MANE Select	ENSP00000369497.3:p.Ser3332Phe
ENST00000544455.6:c.9995C>T	ENSP00000439902.1:p.Ser3332Phe
ENST00000614259.2:c.10003C>T	ENSP00000506251.1:n.10003C>T
ENST00000680887.1:c.9995C>T	ENSP00000505508.1:p.Ser3332Phe
ENST00000380152.7:c.9995C>T	ENSP00000369497.3:p.Ser3332Phe
ENST00000544455.5:c.9995C>T	ENSP00000439902.1:p.Ser3332Phe
NM_000059.3:c.9995C>T , LRG_293t1:c.9995C>T	NP_000050.2:p.Ser3332Phe
XM_011535203.1:c.9995C>T	XP_011533505.1:p.Ser3332Phe
XM_011535204.1:c.9899C>T	XP_011533506.1:p.Ser3300Phe
NM_000059.4:c.9995C>T MANE Select	NP_000050.3:p.Ser3332Phe