Canonical Allele Identifier: CA16042136
Gene: BRCA2 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 371869
dbSNP Id: rs1057517572

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32319317dup , CM000675.2:g.32319317dup GRCh38
NC_000013.10:g.32893454dup , CM000675.1:g.32893454dup GRCh37
NC_000013.9:g.31791454dup NCBI36
NG_012772.3:g.8838dup , LRG_293:g.8838dup

Transcript Alleles

HGVS Amino-acid change
NM_000059.3:c.308dup , LRG_293t1:c.308dup NP_000050.2:p.Leu103PhefsTer10
XM_011535203.1:c.308dup XP_011533505.1:p.Leu103PhefsTer10
XM_011535204.1:c.308dup XP_011533506.1:p.Leu103PhefsTer10
XM_011535205.1:c.308dup XP_011533507.1:p.Leu103PhefsTer10
ENST00000380152.7:c.308dup ENSP00000369497.3:p.Leu103PhefsTer10
ENST00000530893.6:n.506dup
ENST00000544455.5:c.308dup ENSP00000439902.1:p.Leu103PhefsTer10
ENST00000614259.1:n.308dup