Canonical Allele Identifier: CA387754783
Gene: BRCA2 HGNC NCBI

Linked Data

dbSNP Id: rs2072875119

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32376720G>C , CM000675.2:g.32376720G>C GRCh38
NC_000013.10:g.32950857G>C , CM000675.1:g.32950857G>C GRCh37
NC_000013.9:g.31848857G>C NCBI36
NG_012772.3:g.66241G>C , LRG_293:g.66241G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000470094.2:c.8683G>C ENSP00000434898.2:p.Val2895Leu
ENST00000528762.2:c.*50G>C ENSP00000433168.2:n.*50G>C
ENST00000530893.7:c.8314G>C ENSP00000499438.2:p.Val2772Leu
ENST00000665585.2:c.*245G>C ENSP00000499570.2:n.*245G>C
ENST00000666593.2:c.8683G>C ENSP00000499256.2:p.Val2895Leu
ENST00000700202.2:c.8683G>C ENSP00000514856.2:p.Val2895Leu
ENST00000700202.1:c.1150G>C ENSP00000514856.1:p.Val384Leu
ENST00000700203.1:n.810G>C
ENST00000380152.8:c.8683G>C MANE Select ENSP00000369497.3:p.Val2895Leu
ENST00000544455.6:c.8683G>C ENSP00000439902.1:p.Val2895Leu
ENST00000614259.2:c.8691G>C ENSP00000506251.1:n.8691G>C
ENST00000665585.1:c.1561G>C
ENST00000680887.1:c.8683G>C ENSP00000505508.1:p.Val2895Leu
ENST00000380152.7:c.8683G>C ENSP00000369497.3:p.Val2895Leu
ENST00000528762.1:c.245G>C ENSP00000433168.1:n.245G>C
ENST00000544455.5:c.8683G>C ENSP00000439902.1:p.Val2895Leu
NM_000059.3:c.8683G>C , LRG_293t1:c.8683G>C NP_000050.2:p.Val2895Leu
XM_011535203.1:c.8683G>C XP_011533505.1:p.Val2895Leu
XM_011535204.1:c.8587G>C XP_011533506.1:p.Val2863Leu
XM_011535205.1:c.8683G>C XP_011533507.1:p.Val2895Leu
NM_000059.4:c.8683G>C MANE Select NP_000050.3:p.Val2895Leu