Canonical Allele Identifier: CA387760838

Gene: BRCA2

Linked Data

• dbSNP Id: rs2137652207
• MyVariant Identifiers: chr13:g.32968858T>A (hg19) ; chr13:g.32394721T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32394721T>A , CM000675.2:g.32394721T>A	GRCh38
NC_000013.10:g.32968858T>A , CM000675.1:g.32968858T>A	GRCh37
NC_000013.9:g.31866858T>A	NCBI36
NG_012772.3:g.84242T>A , LRG_293:g.84242T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.9289T>A	ENSP00000434898.2:p.Cys3097Ser
ENST00000528762.2:c.*656T>A	ENSP00000433168.2:n.*656T>A
ENST00000530893.7:c.8920T>A	ENSP00000499438.2:p.Cys2974Ser
ENST00000665585.2:c.*851T>A	ENSP00000499570.2:n.*851T>A
ENST00000666593.2:c.*134T>A	ENSP00000499256.2:n.*134T>A
ENST00000700202.2:c.9238T>A	ENSP00000514856.2:p.Cys3080Ser
ENST00000700202.1:c.1705T>A	ENSP00000514856.1:p.Cys569Ser
ENST00000700203.1:n.1416T>A
ENST00000380152.8:c.9289T>A MANE Select	ENSP00000369497.3:p.Cys3097Ser
ENST00000544455.6:c.9289T>A	ENSP00000439902.1:p.Cys3097Ser
ENST00000614259.2:c.9297T>A	ENSP00000506251.1:n.9297T>A
ENST00000665585.1:c.2167T>A
ENST00000666593.1:c.311T>A	ENSP00000499256.1:n.311T>A
ENST00000680887.1:c.9289T>A	ENSP00000505508.1:p.Cys3097Ser
ENST00000380152.7:c.9289T>A	ENSP00000369497.3:p.Cys3097Ser
ENST00000470094.1:c.246T>A
ENST00000544455.5:c.9289T>A	ENSP00000439902.1:p.Cys3097Ser
NM_000059.3:c.9289T>A , LRG_293t1:c.9289T>A	NP_000050.2:p.Cys3097Ser
XM_011535203.1:c.9289T>A	XP_011533505.1:p.Cys3097Ser
XM_011535204.1:c.9193T>A	XP_011533506.1:p.Cys3065Ser
NM_000059.4:c.9289T>A MANE Select	NP_000050.3:p.Cys3097Ser