Canonical Allele Identifier: CA247478109

Gene: BRCA2

Linked Data

• dbSNP Id: rs1051850021
• gnomAD v3: 13-32315619-GTTT-G
• gnomAD v4: 13-32315619-GTTT-G
• MyVariant Identifiers: chr13:g.32889757_32889759del (hg19) ; chr13:g.32315620_32315622del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32315622_32315624del , CM000675.2:g.32315622_32315624del	GRCh38
NC_000013.10:g.32889759_32889761del , CM000675.1:g.32889759_32889761del	GRCh37
NC_000013.9:g.31787759_31787761del	NCBI36
NG_012772.3:g.5143_5145del , LRG_293:g.5143_5145del
NG_017006.1:g.1333_1335del
NG_017006.2:g.4742_4744del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.-85_-83del	ENSP00000434898.2:n.-85_-83del
ENST00000528762.2:c.-85_-83del	ENSP00000433168.2:n.-85_-83del
ENST00000530893.7:c.-450_-448del	ENSP00000499438.2:n.-450_-448del
ENST00000665585.2:c.-85_-83del	ENSP00000499570.2:n.-85_-83del
ENST00000666593.2:c.-85_-83del	ENSP00000499256.2:n.-85_-83del
ENST00000700202.2:c.-85_-83del	ENSP00000514856.2:n.-85_-83del
ENST00000700199.1:n.40_42del
ENST00000700200.1:n.40_42del
ENST00000700201.1:c.-85_-83del	ENSP00000514855.1:n.-85_-83del
ENST00000380152.8:c.-85_-83del MANE Select	ENSP00000369497.3:n.-85_-83del
ENST00000544455.6:c.-40+477_-40+479del	ENSP00000439902.1:n.-40+477_-40+479del
ENST00000380152.7:c.-85_-83del	ENSP00000369497.3:n.-85_-83del
ENST00000530893.6:n.118_120del
ENST00000544455.5:c.-85_-83del	ENSP00000439902.1:n.-85_-83del
NM_000059.3:c.-85_-83del , LRG_293t1:c.-85_-83del	NP_000050.2:n.-85_-83del
XM_011535203.1:c.-40+477_-40+479del	XP_011533505.1:n.-40+477_-40+479del
XM_011535204.1:c.-85_-83del	XP_011533506.1:n.-85_-83del
XM_011535205.1:c.-85_-83del	XP_011533507.1:n.-85_-83del
NM_000059.4:c.-85_-83del MANE Select	NP_000050.3:n.-85_-83del