Canonical Allele Identifier: CA247470677

Gene: BRCA2

Linked Data

• dbSNP Id: rs766535911
• gnomAD v2: 13-32931731-ATAACT-A
• gnomAD v3: 13-32357594-ATAACT-A
• gnomAD v4: 13-32357594-ATAACT-A
• MyVariant Identifiers: chr13:g.32931732_32931736del (hg19) ; chr13:g.32357595_32357599del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32357598_32357602del , CM000675.2:g.32357598_32357602del	GRCh38
NC_000013.10:g.32931735_32931739del , CM000675.1:g.32931735_32931739del	GRCh37
NC_000013.9:g.31829735_31829739del	NCBI36
NG_012772.3:g.47119_47123del , LRG_293:g.47119_47123del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.7618-144_7618-140del	ENSP00000434898.2:n.7618-144_7618-140del
ENST00000528762.2:c.7618-144_7618-140del	ENSP00000433168.2:n.7618-144_7618-140del
ENST00000530893.7:c.7249-144_7249-140del	ENSP00000499438.2:n.7249-144_7249-140del
ENST00000665585.2:c.7618-144_7618-140del	ENSP00000499570.2:n.7618-144_7618-140del
ENST00000666593.2:c.7618-144_7618-140del	ENSP00000499256.2:n.7618-144_7618-140del
ENST00000700202.2:c.7618-144_7618-140del	ENSP00000514856.2:n.7618-144_7618-140del
ENST00000700202.1:c.85-144_85-140del	ENSP00000514856.1:n.85-144_85-140del
ENST00000380152.8:c.7618-144_7618-140del MANE Select	ENSP00000369497.3:n.7618-144_7618-140del
ENST00000544455.6:c.7618-144_7618-140del	ENSP00000439902.1:n.7618-144_7618-140del
ENST00000614259.2:c.7618-144_7618-140del	ENSP00000506251.1:n.7618-144_7618-140del
ENST00000665585.1:c.183-144_183-140del
ENST00000680887.1:c.7618-144_7618-140del	ENSP00000505508.1:n.7618-144_7618-140del
ENST00000380152.7:c.7618-144_7618-140del	ENSP00000369497.3:n.7618-144_7618-140del
ENST00000544455.5:c.7618-144_7618-140del	ENSP00000439902.1:n.7618-144_7618-140del
ENST00000614259.1:n.7618-144_7618-140del
NM_000059.3:c.7618-144_7618-140del , LRG_293t1:c.7618-144_7618-140del	NP_000050.2:n.7618-144_7618-140del
XM_011535203.1:c.7618-144_7618-140del	XP_011533505.1:n.7618-144_7618-140del
XM_011535204.1:c.7522-144_7522-140del	XP_011533506.1:n.7522-144_7522-140del
XM_011535205.1:c.7618-144_7618-140del	XP_011533507.1:n.7618-144_7618-140del
NM_000059.4:c.7618-144_7618-140del MANE Select	NP_000050.3:n.7618-144_7618-140del