Canonical Allele Identifier: CA2082837003

Gene: BRCA2

Linked Data

• dbSNP Id: rs2072905435
• gnomAD v3: 13-32379595-GATAAAGT-G
• gnomAD v4: 13-32379595-GATAAAGT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32379603_32379609del , CM000675.2:g.32379603_32379609del	GRCh38
NC_000013.10:g.32953740_32953746del , CM000675.1:g.32953740_32953746del	GRCh37
NC_000013.9:g.31851740_31851746del	NCBI36
NG_012772.3:g.69124_69130del , LRG_293:g.69124_69130del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.8953+88_8953+94del	ENSP00000434898.2:n.8953+88_8953+94del
ENST00000528762.2:c.*320+88_*320+94del	ENSP00000433168.2:n.*320+88_*320+94del
ENST00000530893.7:c.8584+88_8584+94del	ENSP00000499438.2:n.8584+88_8584+94del
ENST00000665585.2:c.*515+88_*515+94del	ENSP00000499570.2:n.*515+88_*515+94del
ENST00000666593.2:c.8953+88_8953+94del	ENSP00000499256.2:n.8953+88_8953+94del
ENST00000700202.2:c.8953+88_8953+94del	ENSP00000514856.2:n.8953+88_8953+94del
ENST00000700202.1:c.1420+88_1420+94del	ENSP00000514856.1:n.1420+88_1420+94del
ENST00000700203.1:n.1080+88_1080+94del
ENST00000380152.8:c.8953+88_8953+94del MANE Select	ENSP00000369497.3:n.8953+88_8953+94del
ENST00000544455.6:c.8953+88_8953+94del	ENSP00000439902.1:n.8953+88_8953+94del
ENST00000614259.2:c.8961+88_8961+94del	ENSP00000506251.1:n.8961+88_8961+94del
ENST00000665585.1:c.1831+88_1831+94del
ENST00000680887.1:c.8953+88_8953+94del	ENSP00000505508.1:n.8953+88_8953+94del
ENST00000380152.7:c.8953+88_8953+94del	ENSP00000369497.3:n.8953+88_8953+94del
ENST00000544455.5:c.8953+88_8953+94del	ENSP00000439902.1:n.8953+88_8953+94del
NM_000059.3:c.8953+88_8953+94del , LRG_293t1:c.8953+88_8953+94del	NP_000050.2:n.8953+88_8953+94del
XM_011535203.1:c.8953+88_8953+94del	XP_011533505.1:n.8953+88_8953+94del
XM_011535204.1:c.8857+88_8857+94del	XP_011533506.1:n.8857+88_8857+94del
XM_011535205.1:c.8755-147_8755-141del	XP_011533507.1:n.8755-147_8755-141del
NM_000059.4:c.8953+88_8953+94del MANE Select	NP_000050.3:n.8953+88_8953+94del