Canonical Allele Identifier: CA609088309

Gene: BRCA2

Linked Data

• dbSNP Id: rs1481100547
• gnomAD v2: 13-32928677-GTGAA-G
• gnomAD v3: 13-32354540-GTGAA-G
• gnomAD v4: 13-32354540-GTGAA-G
• MyVariant Identifiers: chr13:g.32928678_32928681del (hg19) ; chr13:g.32354541_32354544del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32354541_32354544del , CM000675.2:g.32354541_32354544del	GRCh38
NC_000013.10:g.32928678_32928681del , CM000675.1:g.32928678_32928681del	GRCh37
NC_000013.9:g.31826678_31826681del	NCBI36
NG_012772.3:g.44062_44065del , LRG_293:g.44062_44065del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.7008-320_7008-317del	ENSP00000434898.2:n.7008-320_7008-317del
ENST00000528762.2:c.7008-320_7008-317del	ENSP00000433168.2:n.7008-320_7008-317del
ENST00000530893.7:c.6639-320_6639-317del	ENSP00000499438.2:n.6639-320_6639-317del
ENST00000665585.2:c.7008-320_7008-317del	ENSP00000499570.2:n.7008-320_7008-317del
ENST00000666593.2:c.7008-320_7008-317del	ENSP00000499256.2:n.7008-320_7008-317del
ENST00000700202.2:c.7008-320_7008-317del	ENSP00000514856.2:n.7008-320_7008-317del
ENST00000380152.8:c.7008-320_7008-317del MANE Select	ENSP00000369497.3:n.7008-320_7008-317del
ENST00000544455.6:c.7008-320_7008-317del	ENSP00000439902.1:n.7008-320_7008-317del
ENST00000614259.2:c.7008-320_7008-317del	ENSP00000506251.1:n.7008-320_7008-317del
ENST00000680887.1:c.7008-320_7008-317del	ENSP00000505508.1:n.7008-320_7008-317del
ENST00000380152.7:c.7008-320_7008-317del	ENSP00000369497.3:n.7008-320_7008-317del
ENST00000544455.5:c.7008-320_7008-317del	ENSP00000439902.1:n.7008-320_7008-317del
ENST00000614259.1:n.7008-320_7008-317del
NM_000059.3:c.7008-320_7008-317del , LRG_293t1:c.7008-320_7008-317del	NP_000050.2:n.7008-320_7008-317del
XM_011535203.1:c.7008-320_7008-317del	XP_011533505.1:n.7008-320_7008-317del
XM_011535204.1:c.6912-320_6912-317del	XP_011533506.1:n.6912-320_6912-317del
XM_011535205.1:c.7008-320_7008-317del	XP_011533507.1:n.7008-320_7008-317del
NM_000059.4:c.7008-320_7008-317del MANE Select	NP_000050.3:n.7008-320_7008-317del