Canonical Allele Identifier: CA247478000
Gene: BRCA2 HGNC NCBI

Linked Data

dbSNP Id: rs757165744

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32315461A>G , CM000675.2:g.32315461A>G GRCh38
NC_000013.10:g.32889598A>G , CM000675.1:g.32889598A>G GRCh37
NC_000013.9:g.31787598A>G NCBI36
NG_012772.3:g.4982A>G , LRG_293:g.4982A>G
NG_017006.1:g.1494T>C
NG_017006.2:g.4903T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000544455.6:c.-40+316A>G ENSP00000439902.1:n.-40+316A>G
XM_011535203.1:c.-40+316A>G XP_011533505.1:n.-40+316A>G