Canonical Allele Identifier: CA954699607

Gene: BRCA2

Linked Data

• dbSNP Id: rs2072893412
• gnomAD v3: 13-32379073-TTGG-T
• gnomAD v4: 13-32379073-TTGG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32379076_32379078del , CM000675.2:g.32379076_32379078del	GRCh38
NC_000013.10:g.32953213_32953215del , CM000675.1:g.32953213_32953215del	GRCh37
NC_000013.9:g.31851213_31851215del	NCBI36
NG_012772.3:g.68597_68599del , LRG_293:g.68597_68599del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.8755-241_8755-239del	ENSP00000434898.2:n.8755-241_8755-239del
ENST00000528762.2:c.*122-241_*122-239del	ENSP00000433168.2:n.*122-241_*122-239del
ENST00000530893.7:c.8386-241_8386-239del	ENSP00000499438.2:n.8386-241_8386-239del
ENST00000665585.2:c.*317-241_*317-239del	ENSP00000499570.2:n.*317-241_*317-239del
ENST00000666593.2:c.8755-241_8755-239del	ENSP00000499256.2:n.8755-241_8755-239del
ENST00000700202.2:c.8755-241_8755-239del	ENSP00000514856.2:n.8755-241_8755-239del
ENST00000700202.1:c.1222-241_1222-239del	ENSP00000514856.1:n.1222-241_1222-239del
ENST00000700203.1:n.882-241_882-239del
ENST00000380152.8:c.8755-241_8755-239del MANE Select	ENSP00000369497.3:n.8755-241_8755-239del
ENST00000544455.6:c.8755-241_8755-239del	ENSP00000439902.1:n.8755-241_8755-239del
ENST00000614259.2:c.8763-241_8763-239del	ENSP00000506251.1:n.8763-241_8763-239del
ENST00000665585.1:c.1633-241_1633-239del
ENST00000680887.1:c.8755-241_8755-239del	ENSP00000505508.1:n.8755-241_8755-239del
ENST00000380152.7:c.8755-241_8755-239del	ENSP00000369497.3:n.8755-241_8755-239del
ENST00000528762.1:c.317-241_317-239del	ENSP00000433168.1:n.317-241_317-239del
ENST00000544455.5:c.8755-241_8755-239del	ENSP00000439902.1:n.8755-241_8755-239del
NM_000059.3:c.8755-241_8755-239del , LRG_293t1:c.8755-241_8755-239del	NP_000050.2:n.8755-241_8755-239del
XM_011535203.1:c.8755-241_8755-239del	XP_011533505.1:n.8755-241_8755-239del
XM_011535204.1:c.8659-241_8659-239del	XP_011533506.1:n.8659-241_8659-239del
XM_011535205.1:c.8755-674_8755-672del	XP_011533507.1:n.8755-674_8755-672del
NM_000059.4:c.8755-241_8755-239del MANE Select	NP_000050.3:n.8755-241_8755-239del