Canonical Allele Identifier: CA387767824

Gene: BRCA2

Linked Data

• dbSNP Id: rs1593202211
• MyVariant Identifiers: chr13:g.32972696C>T (hg19) ; chr13:g.32398559C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32398559C>T , CM000675.2:g.32398559C>T	GRCh38
NC_000013.10:g.32972696C>T , CM000675.1:g.32972696C>T	GRCh37
NC_000013.9:g.31870696C>T	NCBI36
NG_012772.3:g.88080C>T , LRG_293:g.88080C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000470094.2:c.*569C>T	ENSP00000434898.2:n.*569C>T
ENST00000528762.2:c.*1413C>T	ENSP00000433168.2:n.*1413C>T
ENST00000530893.7:c.9677C>T	ENSP00000499438.2:p.Thr3226Ile
ENST00000665585.2:c.*1608C>T	ENSP00000499570.2:n.*1608C>T
ENST00000700202.2:c.9995C>T	ENSP00000514856.2:p.Thr3332Ile
ENST00000700202.1:c.2462C>T	ENSP00000514856.1:p.Thr821Ile
ENST00000700203.1:n.2173C>T
ENST00000380152.8:c.10046C>T MANE Select	ENSP00000369497.3:p.Thr3349Ile
ENST00000544455.6:c.10046C>T	ENSP00000439902.1:p.Thr3349Ile
ENST00000614259.2:c.10054C>T	ENSP00000506251.1:n.10054C>T
ENST00000680887.1:c.10046C>T	ENSP00000505508.1:p.Thr3349Ile
ENST00000380152.7:c.10046C>T	ENSP00000369497.3:p.Thr3349Ile
ENST00000544455.5:c.10046C>T	ENSP00000439902.1:p.Thr3349Ile
NM_000059.3:c.10046C>T , LRG_293t1:c.10046C>T	NP_000050.2:p.Thr3349Ile
XM_011535203.1:c.10046C>T	XP_011533505.1:p.Thr3349Ile
XM_011535204.1:c.9950C>T	XP_011533506.1:p.Thr3317Ile
NM_000059.4:c.10046C>T MANE Select	NP_000050.3:p.Thr3349Ile