Canonical Allele Identifier: CA247478020
Gene: BRCA2 HGNC NCBI

Linked Data

dbSNP Id: rs899289400
MyVariant Identifiers: chr13:g.32889626G>A (hg19) chr13:g.32315489G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32315489G>A , CM000675.2:g.32315489G>A GRCh38
NC_000013.10:g.32889626G>A , CM000675.1:g.32889626G>A GRCh37
NC_000013.9:g.31787626G>A NCBI36
NG_012772.3:g.5010G>A , LRG_293:g.5010G>A
NG_017006.1:g.1466C>T
NG_017006.2:g.4875C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000544455.6:c.-40+344G>A ENSP00000439902.1:n.-40+344G>A
ENST00000380152.7:c.-218G>A ENSP00000369497.3:n.-218G>A
ENST00000544455.5:c.-218G>A ENSP00000439902.1:n.-218G>A
NM_000059.3:c.-218G>A , LRG_293t1:c.-218G>A NP_000050.2:n.-218G>A
XM_011535203.1:c.-40+344G>A XP_011533505.1:n.-40+344G>A
XM_011535204.1:c.-218G>A XP_011533506.1:n.-218G>A
XM_011535205.1:c.-218G>A XP_011533507.1:n.-218G>A
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