Canonical Allele Identifier: CA019075

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 51553
• ClinVar RCV Id: RCV000113236 ; RCV000566464 ; RCV000985514 ; RCV001303991 ; RCV003147332
• dbSNP Id: rs80358633
• gnomAD v3: 13-32338248-T-C
• gnomAD v4: 13-32338248-T-C
• MyVariant Identifiers: chr13:g.32912385T>C (hg19) ; chr13:g.32338248T>C (hg38)
• PubMed: PMID:12491499

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32338248T>C , CM000675.2:g.32338248T>C	GRCh38
NC_000013.10:g.32912385T>C , CM000675.1:g.32912385T>C	GRCh37
NC_000013.9:g.31810385T>C	NCBI36
NG_012772.3:g.27769T>C , LRG_293:g.27769T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.3893T>C	ENSP00000434898.2:p.Ile1298Thr
ENST00000528762.2:c.3893T>C	ENSP00000433168.2:p.Ile1298Thr
ENST00000530893.7:c.3524T>C	ENSP00000499438.2:p.Ile1175Thr
ENST00000665585.2:c.3893T>C	ENSP00000499570.2:p.Ile1298Thr
ENST00000666593.2:c.3893T>C	ENSP00000499256.2:p.Ile1298Thr
ENST00000700202.2:c.3893T>C	ENSP00000514856.2:p.Ile1298Thr
ENST00000380152.8:c.3893T>C MANE Select	ENSP00000369497.3:p.Ile1298Thr
ENST00000544455.6:c.3893T>C	ENSP00000439902.1:p.Ile1298Thr
ENST00000614259.2:c.3893T>C	ENSP00000506251.1:p.Ile1298Thr
ENST00000680887.1:c.3893T>C	ENSP00000505508.1:p.Ile1298Thr
ENST00000380152.7:c.3893T>C	ENSP00000369497.3:p.Ile1298Thr
ENST00000544455.5:c.3893T>C	ENSP00000439902.1:p.Ile1298Thr
ENST00000614259.1:n.3893T>C
NM_000059.3:c.3893T>C , LRG_293t1:c.3893T>C	NP_000050.2:p.Ile1298Thr
XM_011535203.1:c.3893T>C	XP_011533505.1:p.Ile1298Thr
XM_011535204.1:c.3893T>C	XP_011533506.1:p.Ile1298Thr
XM_011535205.1:c.3893T>C	XP_011533507.1:p.Ile1298Thr
NM_000059.4:c.3893T>C MANE Select	NP_000050.3:p.Ile1298Thr