Canonical Allele Identifier: CA387757408

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 584513
• ClinVar RCV Id: RCV000708686 ; RCV001050996 ; RCV001759425
• dbSNP Id: rs1566253076
• MyVariant Identifiers: chr13:g.32953914C>T (hg19) ; chr13:g.32379777C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32379777C>T , CM000675.2:g.32379777C>T	GRCh38
NC_000013.10:g.32953914C>T , CM000675.1:g.32953914C>T	GRCh37
NC_000013.9:g.31851914C>T	NCBI36
NG_012772.3:g.69298C>T , LRG_293:g.69298C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.8981C>T	ENSP00000434898.2:p.Ser2994Leu
ENST00000528762.2:c.*348C>T	ENSP00000433168.2:n.*348C>T
ENST00000530893.7:c.8612C>T	ENSP00000499438.2:p.Ser2871Leu
ENST00000665585.2:c.*543C>T	ENSP00000499570.2:n.*543C>T
ENST00000666593.2:c.8981C>T	ENSP00000499256.2:p.Ser2994Leu
ENST00000700202.2:c.8954-24C>T	ENSP00000514856.2:n.8954-24C>T
ENST00000700202.1:c.1421-24C>T	ENSP00000514856.1:n.1421-24C>T
ENST00000700203.1:n.1108C>T
ENST00000380152.8:c.8981C>T MANE Select	ENSP00000369497.3:p.Ser2994Leu
ENST00000544455.6:c.8981C>T	ENSP00000439902.1:p.Ser2994Leu
ENST00000614259.2:c.8989C>T	ENSP00000506251.1:n.8989C>T
ENST00000665585.1:c.1859C>T
ENST00000680887.1:c.8981C>T	ENSP00000505508.1:p.Ser2994Leu
ENST00000380152.7:c.8981C>T	ENSP00000369497.3:p.Ser2994Leu
ENST00000544455.5:c.8981C>T	ENSP00000439902.1:p.Ser2994Leu
NM_000059.3:c.8981C>T , LRG_293t1:c.8981C>T	NP_000050.2:p.Ser2994Leu
XM_011535203.1:c.8981C>T	XP_011533505.1:p.Ser2994Leu
XM_011535204.1:c.8885C>T	XP_011533506.1:p.Ser2962Leu
XM_011535205.1:c.*19C>T	XP_011533507.1:n.*19C>T
NM_000059.4:c.8981C>T MANE Select	NP_000050.3:p.Ser2994Leu