Canonical Allele Identifier: CA025525
Community Standard Title: NM_000059.4(BRCA2):c.8225A>G (p.Asn2742Ser)
Gene: BRCA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32363427A>G , CM000675.2:g.32363427A>G GRCh38
NC_000013.10:g.32937564A>G , CM000675.1:g.32937564A>G GRCh37
NC_000013.9:g.31835564A>G NCBI36
NG_012772.3:g.52948A>G , LRG_293:g.52948A>G

Transcript Alleles

HGVS Amino-acid Change
NM_000059.4:c.8225A>G MANE Select NP_000050.3:p.Asn2742Ser
ENST00000380152.8:c.8225A>G MANE Select ENSP00000369497.3:p.Asn2742Ser
NM_000059.3:c.8225A>G , LRG_293t1:c.8225A>G NP_000050.2:p.Asn2742Ser
ENST00000380152.7:c.8225A>G ENSP00000369497.3:p.Asn2742Ser
ENST00000470094.2:c.8225A>G ENSP00000434898.2:p.Asn2742Ser
ENST00000528762.2:c.8225A>G ENSP00000433168.2:p.Asn2742Ser
ENST00000530893.7:c.7856A>G ENSP00000499438.2:p.Asn2619Ser
ENST00000544455.5:c.8225A>G ENSP00000439902.1:p.Asn2742Ser
ENST00000544455.6:c.8225A>G ENSP00000439902.1:p.Asn2742Ser
ENST00000614259.2:c.8233A>G ENSP00000506251.1:n.8233A>G
ENST00000665585.1:c.790A>G
ENST00000665585.2:c.8225A>G ENSP00000499570.2:p.Asn2742Ser
ENST00000666593.2:c.8225A>G ENSP00000499256.2:p.Asn2742Ser
ENST00000680887.1:c.8225A>G ENSP00000505508.1:p.Asn2742Ser
ENST00000700202.1:c.692A>G ENSP00000514856.1:p.Asn231Ser
ENST00000700202.2:c.8225A>G ENSP00000514856.2:p.Asn2742Ser
XM_011535203.1:c.8225A>G XP_011533505.1:p.Asn2742Ser
XM_011535204.1:c.8129A>G XP_011533506.1:p.Asn2710Ser
XM_011535205.1:c.8225A>G XP_011533507.1:p.Asn2742Ser