Canonical Allele Identifier: CA2727803248
Gene: BRCA2 HGNC NCBI

Linked Data

dbSNP Id: rs2138694899

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32315509G>A , CM000675.2:g.32315509G>A GRCh38
NC_000013.10:g.32889646G>A , CM000675.1:g.32889646G>A GRCh37
NC_000013.9:g.31787646G>A NCBI36
NG_012772.3:g.5030G>A , LRG_293:g.5030G>A
NG_017006.1:g.1446C>T
NG_017006.2:g.4855C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000470094.2:c.-198G>A ENSP00000434898.2:n.-198G>A
ENST00000528762.2:c.-198G>A ENSP00000433168.2:n.-198G>A
ENST00000530893.7:c.-563G>A ENSP00000499438.2:n.-563G>A
ENST00000665585.2:c.-198G>A ENSP00000499570.2:n.-198G>A
ENST00000666593.2:c.-198G>A ENSP00000499256.2:n.-198G>A
ENST00000700202.2:c.-198G>A ENSP00000514856.2:n.-198G>A
ENST00000380152.8:c.-198G>A MANE Select ENSP00000369497.3:n.-198G>A
ENST00000544455.6:c.-40+364G>A ENSP00000439902.1:n.-40+364G>A
ENST00000380152.7:c.-198G>A ENSP00000369497.3:n.-198G>A
ENST00000530893.6:n.5G>A
ENST00000544455.5:c.-198G>A ENSP00000439902.1:n.-198G>A
NM_000059.3:c.-198G>A , LRG_293t1:c.-198G>A NP_000050.2:n.-198G>A
XM_011535203.1:c.-40+364G>A XP_011533505.1:n.-40+364G>A
XM_011535204.1:c.-198G>A XP_011533506.1:n.-198G>A
XM_011535205.1:c.-198G>A XP_011533507.1:n.-198G>A
NM_000059.4:c.-198G>A MANE Select NP_000050.3:n.-198G>A