Canonical Allele Identifier: CA697325656
Gene: BRCA2 HGNC NCBI

Linked Data

dbSNP Id: rs201193580
gnomAD v3: 13-32318439-ATT-A
gnomAD v4: 13-32318439-ATT-A
MyVariant Identifiers: chr13:g.32892577_32892578del (hg19) chr13:g.32318440_32318441del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32318451_32318452del , CM000675.2:g.32318451_32318452del GRCh38
NC_000013.10:g.32892588_32892589del , CM000675.1:g.32892588_32892589del GRCh37
NC_000013.9:g.31790588_31790589del NCBI36
NG_012772.3:g.7972_7973del , LRG_293:g.7972_7973del
NG_017006.2:g.1923_1924del

Transcript Alleles

HGVS Amino-acid Change
ENST00000470094.2:c.68-626_68-625del ENSP00000434898.2:n.68-626_68-625del
ENST00000528762.2:c.68-626_68-625del ENSP00000433168.2:n.68-626_68-625del
ENST00000530893.7:c.-302-626_-302-625del ENSP00000499438.2:n.-302-626_-302-625del
ENST00000665585.2:c.68-626_68-625del ENSP00000499570.2:n.68-626_68-625del
ENST00000666593.2:c.68-626_68-625del ENSP00000499256.2:n.68-626_68-625del
ENST00000700202.2:c.68-626_68-625del ENSP00000514856.2:n.68-626_68-625del
ENST00000700200.1:n.191+1924_191+1925del
ENST00000700201.1:c.68-626_68-625del ENSP00000514855.1:n.68-626_68-625del
ENST00000380152.8:c.68-626_68-625del MANE Select ENSP00000369497.3:n.68-626_68-625del
ENST00000544455.6:c.68-626_68-625del ENSP00000439902.1:n.68-626_68-625del
ENST00000614259.2:c.68-626_68-625del ENSP00000506251.1:n.68-626_68-625del
ENST00000680887.1:c.68-626_68-625del ENSP00000505508.1:n.68-626_68-625del
ENST00000380152.7:c.68-626_68-625del ENSP00000369497.3:n.68-626_68-625del
ENST00000530893.6:n.266-626_266-625del
ENST00000544455.5:c.68-626_68-625del ENSP00000439902.1:n.68-626_68-625del
ENST00000614259.1:n.68-626_68-625del
NM_000059.3:c.68-626_68-625del , LRG_293t1:c.68-626_68-625del NP_000050.2:n.68-626_68-625del
XM_011535203.1:c.68-626_68-625del XP_011533505.1:n.68-626_68-625del
XM_011535204.1:c.68-626_68-625del XP_011533506.1:n.68-626_68-625del
XM_011535205.1:c.68-626_68-625del XP_011533507.1:n.68-626_68-625del
NM_000059.4:c.68-626_68-625del MANE Select NP_000050.3:n.68-626_68-625del
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