Canonical Allele Identifier: CA387765462

Gene: BRCA2

Linked Data

• dbSNP Id: rs779728869
• MyVariant Identifiers: chr13:g.32972366C>T (hg19) ; chr13:g.32398229C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32398229C>T , CM000675.2:g.32398229C>T	GRCh38
NC_000013.10:g.32972366C>T , CM000675.1:g.32972366C>T	GRCh37
NC_000013.9:g.31870366C>T	NCBI36
NG_012772.3:g.87750C>T , LRG_293:g.87750C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.*239C>T	ENSP00000434898.2:n.*239C>T
ENST00000528762.2:c.*1083C>T	ENSP00000433168.2:n.*1083C>T
ENST00000530893.7:c.9347C>T	ENSP00000499438.2:p.Ser3116Phe
ENST00000665585.2:c.*1278C>T	ENSP00000499570.2:n.*1278C>T
ENST00000700202.2:c.9665C>T	ENSP00000514856.2:p.Ser3222Phe
ENST00000700202.1:c.2132C>T	ENSP00000514856.1:p.Ser711Phe
ENST00000700203.1:n.1843C>T
ENST00000380152.8:c.9716C>T MANE Select	ENSP00000369497.3:p.Ser3239Phe
ENST00000544455.6:c.9716C>T	ENSP00000439902.1:p.Ser3239Phe
ENST00000614259.2:c.9724C>T	ENSP00000506251.1:n.9724C>T
ENST00000665585.1:c.2594C>T
ENST00000680887.1:c.9716C>T	ENSP00000505508.1:p.Ser3239Phe
ENST00000380152.7:c.9716C>T	ENSP00000369497.3:p.Ser3239Phe
ENST00000470094.1:c.799C>T
ENST00000533776.1:n.304C>T
ENST00000544455.5:c.9716C>T	ENSP00000439902.1:p.Ser3239Phe
NM_000059.3:c.9716C>T , LRG_293t1:c.9716C>T	NP_000050.2:p.Ser3239Phe
XM_011535203.1:c.9716C>T	XP_011533505.1:p.Ser3239Phe
XM_011535204.1:c.9620C>T	XP_011533506.1:p.Ser3207Phe
NM_000059.4:c.9716C>T MANE Select	NP_000050.3:p.Ser3239Phe