Canonical Allele Identifier: CA387754846
Gene: BRCA2 HGNC NCBI

Linked Data

dbSNP Id: rs2137612969

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32376735G>A , CM000675.2:g.32376735G>A GRCh38
NC_000013.10:g.32950872G>A , CM000675.1:g.32950872G>A GRCh37
NC_000013.9:g.31848872G>A NCBI36
NG_012772.3:g.66256G>A , LRG_293:g.66256G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000470094.2:c.8698G>A ENSP00000434898.2:p.Asp2900Asn
ENST00000528762.2:c.*65G>A ENSP00000433168.2:n.*65G>A
ENST00000530893.7:c.8329G>A ENSP00000499438.2:p.Asp2777Asn
ENST00000665585.2:c.*260G>A ENSP00000499570.2:n.*260G>A
ENST00000666593.2:c.8698G>A ENSP00000499256.2:p.Asp2900Asn
ENST00000700202.2:c.8698G>A ENSP00000514856.2:p.Asp2900Asn
ENST00000700202.1:c.1165G>A ENSP00000514856.1:p.Asp389Asn
ENST00000700203.1:n.825G>A
ENST00000380152.8:c.8698G>A MANE Select ENSP00000369497.3:p.Asp2900Asn
ENST00000544455.6:c.8698G>A ENSP00000439902.1:p.Asp2900Asn
ENST00000614259.2:c.8706G>A ENSP00000506251.1:n.8706G>A
ENST00000665585.1:c.1576G>A
ENST00000680887.1:c.8698G>A ENSP00000505508.1:p.Asp2900Asn
ENST00000380152.7:c.8698G>A ENSP00000369497.3:p.Asp2900Asn
ENST00000528762.1:c.260G>A ENSP00000433168.1:n.260G>A
ENST00000544455.5:c.8698G>A ENSP00000439902.1:p.Asp2900Asn
NM_000059.3:c.8698G>A , LRG_293t1:c.8698G>A NP_000050.2:p.Asp2900Asn
XM_011535203.1:c.8698G>A XP_011533505.1:p.Asp2900Asn
XM_011535204.1:c.8602G>A XP_011533506.1:p.Asp2868Asn
XM_011535205.1:c.8698G>A XP_011533507.1:p.Asp2900Asn
NM_000059.4:c.8698G>A MANE Select NP_000050.3:p.Asp2900Asn