Canonical Allele Identifier: CA010536
Gene: BRCA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 41540
dbSNP Id: rs1801426

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32398747A>G , CM000675.2:g.32398747A>G GRCh38
NC_000013.10:g.32972884A>G , CM000675.1:g.32972884A>G GRCh37
NC_000013.9:g.31870884A>G NCBI36
NG_012772.3:g.88268A>G , LRG_293:g.88268A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000380152.8:c.10234A>G MANE Select ENSP00000369497.3:p.Ile3412Val
ENST00000544455.6:c.10234A>G ENSP00000439902.1:p.Ile3412Val
ENST00000614259.2:n.10242A>G ENSP00000506251.1:p.=
ENST00000680887.1:c.10234A>G ENSP00000505508.1:p.Ile3412Val
ENST00000380152.7:c.10234A>G ENSP00000369497.3:p.Ile3412Val
ENST00000544455.5:c.10234A>G ENSP00000439902.1:p.Ile3412Val
NM_000059.3:c.10234A>G , LRG_293t1:c.10234A>G NP_000050.2:p.Ile3412Val
XM_011535203.1:c.10234A>G XP_011533505.1:p.Ile3412Val
XM_011535204.1:c.10138A>G XP_011533506.1:p.Ile3380Val
NM_000059.4:c.10234A>G MANE Select NP_000050.3:p.Ile3412Val