Canonical Allele Identifier: CA387765497

Gene: BRCA2

Linked Data

• dbSNP Id: rs768210077
• MyVariant Identifiers: chr13:g.32972375C>A (hg19) ; chr13:g.32398238C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32398238C>A , CM000675.2:g.32398238C>A	GRCh38
NC_000013.10:g.32972375C>A , CM000675.1:g.32972375C>A	GRCh37
NC_000013.9:g.31870375C>A	NCBI36
NG_012772.3:g.87759C>A , LRG_293:g.87759C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.*248C>A	ENSP00000434898.2:n.*248C>A
ENST00000528762.2:c.*1092C>A	ENSP00000433168.2:n.*1092C>A
ENST00000530893.7:c.9356C>A	ENSP00000499438.2:p.Thr3119Lys
ENST00000665585.2:c.*1287C>A	ENSP00000499570.2:n.*1287C>A
ENST00000700202.2:c.9674C>A	ENSP00000514856.2:p.Thr3225Lys
ENST00000700202.1:c.2141C>A	ENSP00000514856.1:p.Thr714Lys
ENST00000700203.1:n.1852C>A
ENST00000380152.8:c.9725C>A MANE Select	ENSP00000369497.3:p.Thr3242Lys
ENST00000544455.6:c.9725C>A	ENSP00000439902.1:p.Thr3242Lys
ENST00000614259.2:c.9733C>A	ENSP00000506251.1:n.9733C>A
ENST00000680887.1:c.9725C>A	ENSP00000505508.1:p.Thr3242Lys
ENST00000380152.7:c.9725C>A	ENSP00000369497.3:p.Thr3242Lys
ENST00000470094.1:c.808C>A
ENST00000533776.1:n.313C>A
ENST00000544455.5:c.9725C>A	ENSP00000439902.1:p.Thr3242Lys
NM_000059.3:c.9725C>A , LRG_293t1:c.9725C>A	NP_000050.2:p.Thr3242Lys
XM_011535203.1:c.9725C>A	XP_011533505.1:p.Thr3242Lys
XM_011535204.1:c.9629C>A	XP_011533506.1:p.Thr3210Lys
NM_000059.4:c.9725C>A MANE Select	NP_000050.3:p.Thr3242Lys