Canonical Allele Identifier: CA387767847

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 1717851
• ClinVar RCV Id: RCV002297848 ; RCV002409642
• dbSNP Id: rs1475702169
• MyVariant Identifiers: chr13:g.32972704C>T (hg19) ; chr13:g.32398567C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32398567C>T , CM000675.2:g.32398567C>T	GRCh38
NC_000013.10:g.32972704C>T , CM000675.1:g.32972704C>T	GRCh37
NC_000013.9:g.31870704C>T	NCBI36
NG_012772.3:g.88088C>T , LRG_293:g.88088C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000470094.2:c.*577C>T	ENSP00000434898.2:n.*577C>T
ENST00000528762.2:c.*1421C>T	ENSP00000433168.2:n.*1421C>T
ENST00000530893.7:c.9685C>T	ENSP00000499438.2:p.Leu3229Phe
ENST00000665585.2:c.*1616C>T	ENSP00000499570.2:n.*1616C>T
ENST00000700202.2:c.10003C>T	ENSP00000514856.2:p.Leu3335Phe
ENST00000700202.1:c.2470C>T	ENSP00000514856.1:p.Leu824Phe
ENST00000700203.1:n.2181C>T
ENST00000380152.8:c.10054C>T MANE Select	ENSP00000369497.3:p.Leu3352Phe
ENST00000544455.6:c.10054C>T	ENSP00000439902.1:p.Leu3352Phe
ENST00000614259.2:c.10062C>T	ENSP00000506251.1:n.10062C>T
ENST00000680887.1:c.10054C>T	ENSP00000505508.1:p.Leu3352Phe
ENST00000380152.7:c.10054C>T	ENSP00000369497.3:p.Leu3352Phe
ENST00000544455.5:c.10054C>T	ENSP00000439902.1:p.Leu3352Phe
NM_000059.3:c.10054C>T , LRG_293t1:c.10054C>T	NP_000050.2:p.Leu3352Phe
XM_011535203.1:c.10054C>T	XP_011533505.1:p.Leu3352Phe
XM_011535204.1:c.9958C>T	XP_011533506.1:p.Leu3320Phe
NM_000059.4:c.10054C>T MANE Select	NP_000050.3:p.Leu3352Phe