Canonical Allele Identifier: CA387763236

Gene: BRCA2

Linked Data

• dbSNP Id: rs2073040815
• MyVariant Identifiers: chr13:g.32971090C>T (hg19) ; chr13:g.32396953C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32396953C>T , CM000675.2:g.32396953C>T	GRCh38
NC_000013.10:g.32971090C>T , CM000675.1:g.32971090C>T	GRCh37
NC_000013.9:g.31869090C>T	NCBI36
NG_012772.3:g.86474C>T , LRG_293:g.86474C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.*80C>T	ENSP00000434898.2:n.*80C>T
ENST00000528762.2:c.*924C>T	ENSP00000433168.2:n.*924C>T
ENST00000530893.7:c.9188C>T	ENSP00000499438.2:p.Ala3063Val
ENST00000665585.2:c.*1119C>T	ENSP00000499570.2:n.*1119C>T
ENST00000700202.2:c.9506C>T	ENSP00000514856.2:p.Ala3169Val
ENST00000700202.1:c.1973C>T	ENSP00000514856.1:p.Ala658Val
ENST00000700203.1:n.1684C>T
ENST00000380152.8:c.9557C>T MANE Select	ENSP00000369497.3:p.Ala3186Val
ENST00000544455.6:c.9557C>T	ENSP00000439902.1:p.Ala3186Val
ENST00000614259.2:c.9565C>T	ENSP00000506251.1:n.9565C>T
ENST00000665585.1:c.2435C>T
ENST00000680887.1:c.9557C>T	ENSP00000505508.1:p.Ala3186Val
ENST00000380152.7:c.9557C>T	ENSP00000369497.3:p.Ala3186Val
ENST00000470094.1:c.640C>T
ENST00000533776.1:n.145C>T
ENST00000544455.5:c.9557C>T	ENSP00000439902.1:p.Ala3186Val
NM_000059.3:c.9557C>T , LRG_293t1:c.9557C>T	NP_000050.2:p.Ala3186Val
XM_011535203.1:c.9557C>T	XP_011533505.1:p.Ala3186Val
XM_011535204.1:c.9461C>T	XP_011533506.1:p.Ala3154Val
NM_000059.4:c.9557C>T MANE Select	NP_000050.3:p.Ala3186Val