Canonical Allele Identifier: CA387765852

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 1508075
• ClinVar RCV Id: RCV002013765
• dbSNP Id: rs2137663724
• MyVariant Identifiers: chr13:g.32972425A>T (hg19) ; chr13:g.32398288A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32398288A>T , CM000675.2:g.32398288A>T	GRCh38
NC_000013.10:g.32972425A>T , CM000675.1:g.32972425A>T	GRCh37
NC_000013.9:g.31870425A>T	NCBI36
NG_012772.3:g.87809A>T , LRG_293:g.87809A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.*298A>T	ENSP00000434898.2:n.*298A>T
ENST00000528762.2:c.*1142A>T	ENSP00000433168.2:n.*1142A>T
ENST00000530893.7:c.9406A>T	ENSP00000499438.2:p.Ile3136Phe
ENST00000665585.2:c.*1337A>T	ENSP00000499570.2:n.*1337A>T
ENST00000700202.2:c.9724A>T	ENSP00000514856.2:p.Ile3242Phe
ENST00000700202.1:c.2191A>T	ENSP00000514856.1:p.Ile731Phe
ENST00000700203.1:n.1902A>T
ENST00000380152.8:c.9775A>T MANE Select	ENSP00000369497.3:p.Ile3259Phe
ENST00000544455.6:c.9775A>T	ENSP00000439902.1:p.Ile3259Phe
ENST00000614259.2:c.9783A>T	ENSP00000506251.1:n.9783A>T
ENST00000680887.1:c.9775A>T	ENSP00000505508.1:p.Ile3259Phe
ENST00000380152.7:c.9775A>T	ENSP00000369497.3:p.Ile3259Phe
ENST00000533776.1:n.363A>T
ENST00000544455.5:c.9775A>T	ENSP00000439902.1:p.Ile3259Phe
NM_000059.3:c.9775A>T , LRG_293t1:c.9775A>T	NP_000050.2:p.Ile3259Phe
XM_011535203.1:c.9775A>T	XP_011533505.1:p.Ile3259Phe
XM_011535204.1:c.9679A>T	XP_011533506.1:p.Ile3227Phe
NM_000059.4:c.9775A>T MANE Select	NP_000050.3:p.Ile3259Phe