Canonical Allele Identifier: CA609083127
Gene: BRCA2 HGNC NCBI

Linked Data

dbSNP Id: rs1388665391
gnomAD v2: 13-32889623-C-A
gnomAD v3: 13-32315486-C-A
gnomAD v4: 13-32315486-C-A
MyVariant Identifiers: chr13:g.32889623C>A (hg19) chr13:g.32315486C>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32315486C>A , CM000675.2:g.32315486C>A GRCh38
NC_000013.10:g.32889623C>A , CM000675.1:g.32889623C>A GRCh37
NC_000013.9:g.31787623C>A NCBI36
NG_012772.3:g.5007C>A , LRG_293:g.5007C>A
NG_017006.1:g.1469G>T
NG_017006.2:g.4878G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000544455.6:c.-40+341C>A ENSP00000439902.1:n.-40+341C>A
ENST00000380152.7:c.-221C>A ENSP00000369497.3:n.-221C>A
ENST00000544455.5:c.-221C>A ENSP00000439902.1:n.-221C>A
NM_000059.3:c.-221C>A , LRG_293t1:c.-221C>A NP_000050.2:n.-221C>A
XM_011535203.1:c.-40+341C>A XP_011533505.1:n.-40+341C>A
XM_011535204.1:c.-221C>A XP_011533506.1:n.-221C>A
XM_011535205.1:c.-221C>A XP_011533507.1:n.-221C>A
Search 100 bp 5'
Search 100 bp 3'