Canonical Allele Identifier: CA387767716

Gene: BRCA2

Linked Data

• dbSNP Id: rs1593202166
• MyVariant Identifiers: chr13:g.32972663C>T (hg19) ; chr13:g.32398526C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32398526C>T , CM000675.2:g.32398526C>T	GRCh38
NC_000013.10:g.32972663C>T , CM000675.1:g.32972663C>T	GRCh37
NC_000013.9:g.31870663C>T	NCBI36
NG_012772.3:g.88047C>T , LRG_293:g.88047C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.*536C>T	ENSP00000434898.2:n.*536C>T
ENST00000528762.2:c.*1380C>T	ENSP00000433168.2:n.*1380C>T
ENST00000530893.7:c.9644C>T	ENSP00000499438.2:p.Ser3215Leu
ENST00000665585.2:c.*1575C>T	ENSP00000499570.2:n.*1575C>T
ENST00000700202.2:c.9962C>T	ENSP00000514856.2:p.Ser3321Leu
ENST00000700202.1:c.2429C>T	ENSP00000514856.1:p.Ser810Leu
ENST00000700203.1:n.2140C>T
ENST00000380152.8:c.10013C>T MANE Select	ENSP00000369497.3:p.Ser3338Leu
ENST00000544455.6:c.10013C>T	ENSP00000439902.1:p.Ser3338Leu
ENST00000614259.2:c.10021C>T	ENSP00000506251.1:n.10021C>T
ENST00000680887.1:c.10013C>T	ENSP00000505508.1:p.Ser3338Leu
ENST00000380152.7:c.10013C>T	ENSP00000369497.3:p.Ser3338Leu
ENST00000544455.5:c.10013C>T	ENSP00000439902.1:p.Ser3338Leu
NM_000059.3:c.10013C>T , LRG_293t1:c.10013C>T	NP_000050.2:p.Ser3338Leu
XM_011535203.1:c.10013C>T	XP_011533505.1:p.Ser3338Leu
XM_011535204.1:c.9917C>T	XP_011533506.1:p.Ser3306Leu
NM_000059.4:c.10013C>T MANE Select	NP_000050.3:p.Ser3338Leu