Canonical Allele Identifier: CA387765130

Gene: BRCA2

Linked Data

• dbSNP Id: rs2137662627
• MyVariant Identifiers: chr13:g.32972313T>G (hg19) ; chr13:g.32398176T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32398176T>G , CM000675.2:g.32398176T>G	GRCh38
NC_000013.10:g.32972313T>G , CM000675.1:g.32972313T>G	GRCh37
NC_000013.9:g.31870313T>G	NCBI36
NG_012772.3:g.87697T>G , LRG_293:g.87697T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000470094.2:c.*186T>G	ENSP00000434898.2:n.*186T>G
ENST00000528762.2:c.*1030T>G	ENSP00000433168.2:n.*1030T>G
ENST00000530893.7:c.9294T>G	ENSP00000499438.2:p.Asn3098Lys
ENST00000665585.2:c.*1225T>G	ENSP00000499570.2:n.*1225T>G
ENST00000700202.2:c.9612T>G	ENSP00000514856.2:p.Asn3204Lys
ENST00000700202.1:c.2079T>G	ENSP00000514856.1:p.Asn693Lys
ENST00000700203.1:n.1790T>G
ENST00000380152.8:c.9663T>G MANE Select	ENSP00000369497.3:p.Asn3221Lys
ENST00000544455.6:c.9663T>G	ENSP00000439902.1:p.Asn3221Lys
ENST00000614259.2:c.9671T>G	ENSP00000506251.1:n.9671T>G
ENST00000665585.1:c.2541T>G
ENST00000680887.1:c.9663T>G	ENSP00000505508.1:p.Asn3221Lys
ENST00000380152.7:c.9663T>G	ENSP00000369497.3:p.Asn3221Lys
ENST00000470094.1:c.746T>G
ENST00000533776.1:n.251T>G
ENST00000544455.5:c.9663T>G	ENSP00000439902.1:p.Asn3221Lys
NM_000059.3:c.9663T>G , LRG_293t1:c.9663T>G	NP_000050.2:p.Asn3221Lys
XM_011535203.1:c.9663T>G	XP_011533505.1:p.Asn3221Lys
XM_011535204.1:c.9567T>G	XP_011533506.1:p.Asn3189Lys
NM_000059.4:c.9663T>G MANE Select	NP_000050.3:p.Asn3221Lys