Canonical Allele Identifier: CA026095
Community Standard Title: NM_000059.4(BRCA2):c.9296A>G (p.Asn3099Ser)
Gene: BRCA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32394728A>G , CM000675.2:g.32394728A>G GRCh38
NC_000013.10:g.32968865A>G , CM000675.1:g.32968865A>G GRCh37
NC_000013.9:g.31866865A>G NCBI36
NG_012772.3:g.84249A>G , LRG_293:g.84249A>G

Transcript Alleles

HGVS Amino-acid Change
NM_000059.4:c.9296A>G MANE Select NP_000050.3:p.Asn3099Ser
ENST00000380152.8:c.9296A>G MANE Select ENSP00000369497.3:p.Asn3099Ser
NM_000059.3:c.9296A>G , LRG_293t1:c.9296A>G NP_000050.2:p.Asn3099Ser
ENST00000380152.7:c.9296A>G ENSP00000369497.3:p.Asn3099Ser
ENST00000470094.1:c.253A>G
ENST00000470094.2:c.9296A>G ENSP00000434898.2:p.Asn3099Ser
ENST00000528762.2:c.*663A>G ENSP00000433168.2:n.*663A>G
ENST00000530893.7:c.8927A>G ENSP00000499438.2:p.Asn2976Ser
ENST00000544455.5:c.9296A>G ENSP00000439902.1:p.Asn3099Ser
ENST00000544455.6:c.9296A>G ENSP00000439902.1:p.Asn3099Ser
ENST00000614259.2:c.9304A>G ENSP00000506251.1:n.9304A>G
ENST00000665585.1:c.2174A>G
ENST00000665585.2:c.*858A>G ENSP00000499570.2:n.*858A>G
ENST00000666593.1:c.318A>G ENSP00000499256.1:n.318A>G
ENST00000666593.2:c.*141A>G ENSP00000499256.2:n.*141A>G
ENST00000680887.1:c.9296A>G ENSP00000505508.1:p.Asn3099Ser
ENST00000700202.1:c.1712A>G ENSP00000514856.1:p.Asn571Ser
ENST00000700202.2:c.9245A>G ENSP00000514856.2:p.Asn3082Ser
ENST00000700203.1:n.1423A>G
XM_011535203.1:c.9296A>G XP_011533505.1:p.Asn3099Ser
XM_011535204.1:c.9200A>G XP_011533506.1:p.Asn3067Ser