Canonical Allele Identifier: CA2082772289
Gene: BRCA2 HGNC NCBI

Linked Data

dbSNP Id: rs2072245021
gnomAD v4: 13-32315474-G-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32315474G>T , CM000675.2:g.32315474G>T GRCh38
NC_000013.10:g.32889611G>T , CM000675.1:g.32889611G>T GRCh37
NC_000013.9:g.31787611G>T NCBI36
NG_012772.3:g.4995G>T , LRG_293:g.4995G>T
NG_017006.1:g.1481C>A
NG_017006.2:g.4890C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000544455.6:c.-40+329G>T ENSP00000439902.1:n.-40+329G>T
ENST00000380152.7:c.-233G>T ENSP00000369497.3:n.-233G>T
XM_011535203.1:c.-40+329G>T XP_011533505.1:n.-40+329G>T
XM_011535204.1:c.-233G>T XP_011533506.1:n.-233G>T
XM_011535205.1:c.-233G>T XP_011533507.1:n.-233G>T
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