Canonical Allele Identifier: CA10579811

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 232526
• ClinVar RCV Id: RCV000222210
• dbSNP Id: rs80359165
• MyVariant Identifiers: chr13:g.32954037A>T (hg19) ; chr13:g.32379900A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32379900A>T , CM000675.2:g.32379900A>T	GRCh38
NC_000013.10:g.32954037A>T , CM000675.1:g.32954037A>T	GRCh37
NC_000013.9:g.31852037A>T	NCBI36
NG_012772.3:g.69421A>T , LRG_293:g.69421A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000470094.2:c.9104A>T	ENSP00000434898.2:p.Tyr3035Phe
ENST00000528762.2:c.*471A>T	ENSP00000433168.2:n.*471A>T
ENST00000530893.7:c.8735A>T	ENSP00000499438.2:p.Tyr2912Phe
ENST00000665585.2:c.*666A>T	ENSP00000499570.2:n.*666A>T
ENST00000666593.2:c.9104A>T	ENSP00000499256.2:p.Tyr3035Phe
ENST00000700202.2:c.9053A>T	ENSP00000514856.2:p.Tyr3018Phe
ENST00000700202.1:c.1520A>T	ENSP00000514856.1:p.Tyr507Phe
ENST00000700203.1:n.1231A>T
ENST00000380152.8:c.9104A>T MANE Select	ENSP00000369497.3:p.Tyr3035Phe
ENST00000544455.6:c.9104A>T	ENSP00000439902.1:p.Tyr3035Phe
ENST00000614259.2:c.9112A>T	ENSP00000506251.1:n.9112A>T
ENST00000665585.1:c.1982A>T
ENST00000680887.1:c.9104A>T	ENSP00000505508.1:p.Tyr3035Phe
ENST00000380152.7:c.9104A>T	ENSP00000369497.3:p.Tyr3035Phe
ENST00000470094.1:c.61A>T
ENST00000544455.5:c.9104A>T	ENSP00000439902.1:p.Tyr3035Phe
NM_000059.3:c.9104A>T , LRG_293t1:c.9104A>T	NP_000050.2:p.Tyr3035Phe
XM_011535203.1:c.9104A>T	XP_011533505.1:p.Tyr3035Phe
XM_011535204.1:c.9008A>T	XP_011533506.1:p.Tyr3003Phe
NM_000059.4:c.9104A>T MANE Select	NP_000050.3:p.Tyr3035Phe