Canonical Allele Identifier: CA387767701

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 818242
• ClinVar RCV Id: RCV001009652
• dbSNP Id: rs1555290018
• MyVariant Identifiers: chr13:g.32972659A>T (hg19) ; chr13:g.32398522A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32398522A>T , CM000675.2:g.32398522A>T	GRCh38
NC_000013.10:g.32972659A>T , CM000675.1:g.32972659A>T	GRCh37
NC_000013.9:g.31870659A>T	NCBI36
NG_012772.3:g.88043A>T , LRG_293:g.88043A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.*532A>T	ENSP00000434898.2:n.*532A>T
ENST00000528762.2:c.*1376A>T	ENSP00000433168.2:n.*1376A>T
ENST00000530893.7:c.9640A>T	ENSP00000499438.2:p.Asn3214Tyr
ENST00000665585.2:c.*1571A>T	ENSP00000499570.2:n.*1571A>T
ENST00000700202.2:c.9958A>T	ENSP00000514856.2:p.Asn3320Tyr
ENST00000700202.1:c.2425A>T	ENSP00000514856.1:p.Asn809Tyr
ENST00000700203.1:n.2136A>T
ENST00000380152.8:c.10009A>T MANE Select	ENSP00000369497.3:p.Asn3337Tyr
ENST00000544455.6:c.10009A>T	ENSP00000439902.1:p.Asn3337Tyr
ENST00000614259.2:c.10017A>T	ENSP00000506251.1:n.10017A>T
ENST00000680887.1:c.10009A>T	ENSP00000505508.1:p.Asn3337Tyr
ENST00000380152.7:c.10009A>T	ENSP00000369497.3:p.Asn3337Tyr
ENST00000544455.5:c.10009A>T	ENSP00000439902.1:p.Asn3337Tyr
NM_000059.3:c.10009A>T , LRG_293t1:c.10009A>T	NP_000050.2:p.Asn3337Tyr
XM_011535203.1:c.10009A>T	XP_011533505.1:p.Asn3337Tyr
XM_011535204.1:c.9913A>T	XP_011533506.1:p.Asn3305Tyr
NM_000059.4:c.10009A>T MANE Select	NP_000050.3:p.Asn3337Tyr