Canonical Allele Identifier: CA022330

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 91414
• ClinVar RCV Id: RCV001192447
• dbSNP Id: rs398122532
• COSMIC: COSM5470156 ; COSM5470157
• MyVariant Identifiers: chr13:g.32913930T>C (hg19) ; chr13:g.32339793T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32339793T>C , CM000675.2:g.32339793T>C	GRCh38
NC_000013.10:g.32913930T>C , CM000675.1:g.32913930T>C	GRCh37
NC_000013.9:g.31811930T>C	NCBI36
NG_012772.3:g.29314T>C , LRG_293:g.29314T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000470094.2:c.5438T>C	ENSP00000434898.2:p.Leu1813Pro
ENST00000528762.2:c.5438T>C	ENSP00000433168.2:p.Leu1813Pro
ENST00000530893.7:c.5069T>C	ENSP00000499438.2:p.Leu1690Pro
ENST00000665585.2:c.5438T>C	ENSP00000499570.2:p.Leu1813Pro
ENST00000666593.2:c.5438T>C	ENSP00000499256.2:p.Leu1813Pro
ENST00000700202.2:c.5438T>C	ENSP00000514856.2:p.Leu1813Pro
ENST00000380152.8:c.5438T>C MANE Select	ENSP00000369497.3:p.Leu1813Pro
ENST00000544455.6:c.5438T>C	ENSP00000439902.1:p.Leu1813Pro
ENST00000614259.2:c.5438T>C	ENSP00000506251.1:p.Leu1813Pro
ENST00000680887.1:c.5438T>C	ENSP00000505508.1:p.Leu1813Pro
ENST00000380152.7:c.5438T>C	ENSP00000369497.3:p.Leu1813Pro
ENST00000544455.5:c.5438T>C	ENSP00000439902.1:p.Leu1813Pro
ENST00000614259.1:n.5438T>C
NM_000059.3:c.5438T>C , LRG_293t1:c.5438T>C	NP_000050.2:p.Leu1813Pro
XM_011535203.1:c.5438T>C	XP_011533505.1:p.Leu1813Pro
XM_011535204.1:c.5438T>C	XP_011533506.1:p.Leu1813Pro
XM_011535205.1:c.5438T>C	XP_011533507.1:p.Leu1813Pro
NM_000059.4:c.5438T>C MANE Select	NP_000050.3:p.Leu1813Pro