Canonical Allele Identifier: CA387767869

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 2920895
• ClinVar RCV Id: RCV003736442 ; RCV004005933
• dbSNP Id: rs1555290030
• MyVariant Identifiers: chr13:g.32972711C>T (hg19) ; chr13:g.32398574C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32398574C>T , CM000675.2:g.32398574C>T	GRCh38
NC_000013.10:g.32972711C>T , CM000675.1:g.32972711C>T	GRCh37
NC_000013.9:g.31870711C>T	NCBI36
NG_012772.3:g.88095C>T , LRG_293:g.88095C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.*584C>T	ENSP00000434898.2:n.*584C>T
ENST00000528762.2:c.*1428C>T	ENSP00000433168.2:n.*1428C>T
ENST00000530893.7:c.9692C>T	ENSP00000499438.2:p.Ser3231Phe
ENST00000665585.2:c.*1623C>T	ENSP00000499570.2:n.*1623C>T
ENST00000700202.2:c.10010C>T	ENSP00000514856.2:p.Ser3337Phe
ENST00000700202.1:c.2477C>T	ENSP00000514856.1:p.Ser826Phe
ENST00000700203.1:n.2188C>T
ENST00000380152.8:c.10061C>T MANE Select	ENSP00000369497.3:p.Ser3354Phe
ENST00000544455.6:c.10061C>T	ENSP00000439902.1:p.Ser3354Phe
ENST00000614259.2:c.10069C>T	ENSP00000506251.1:n.10069C>T
ENST00000680887.1:c.10061C>T	ENSP00000505508.1:p.Ser3354Phe
ENST00000380152.7:c.10061C>T	ENSP00000369497.3:p.Ser3354Phe
ENST00000544455.5:c.10061C>T	ENSP00000439902.1:p.Ser3354Phe
NM_000059.3:c.10061C>T , LRG_293t1:c.10061C>T	NP_000050.2:p.Ser3354Phe
XM_011535203.1:c.10061C>T	XP_011533505.1:p.Ser3354Phe
XM_011535204.1:c.9965C>T	XP_011533506.1:p.Ser3322Phe
NM_000059.4:c.10061C>T MANE Select	NP_000050.3:p.Ser3354Phe