Canonical Allele Identifier: CA2499222016

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 1174606
• ClinVar RCV Id: RCV001528202
• dbSNP Id: rs2138703748

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32319102_32319106del , CM000675.2:g.32319102_32319106del	GRCh38
NC_000013.10:g.32893239_32893243del , CM000675.1:g.32893239_32893243del	GRCh37
NC_000013.9:g.31791239_31791243del	NCBI36
NG_012772.3:g.8623_8627del , LRG_293:g.8623_8627del
NG_017006.2:g.1261_1265del

Transcript Alleles

HGVS	Amino-acid change
ENST00000470094.2:c.93_97del	ENSP00000434898.2:p.Trp31Ter
ENST00000528762.2:c.93_97del	ENSP00000433168.2:p.Trp31Ter
ENST00000530893.7:c.-277_-273del	ENSP00000499438.2:n.-277_-273del
ENST00000665585.2:c.93_97del	ENSP00000499570.2:p.Trp31Ter
ENST00000666593.2:c.93_97del	ENSP00000499256.2:p.Trp31Ter
ENST00000700202.2:c.93_97del	ENSP00000514856.2:p.Trp31Ter
ENST00000700200.1:n.191+2575_191+2579del
ENST00000700201.1:c.93_97del	ENSP00000514855.1:p.Trp31Ter
ENST00000380152.8:c.93_97del MANE Select	ENSP00000369497.3:p.Trp31Ter
ENST00000544455.6:c.93_97del	ENSP00000439902.1:p.Trp31Ter
ENST00000614259.2:c.93_97del	ENSP00000506251.1:p.Trp31Ter
ENST00000680887.1:c.93_97del	ENSP00000505508.1:p.Trp31Ter
ENST00000380152.7:c.93_97del	ENSP00000369497.3:p.Trp31Ter
ENST00000530893.6:n.291_295del
ENST00000544455.5:c.93_97del	ENSP00000439902.1:p.Trp31Ter
ENST00000614259.1:n.93_97del
NM_000059.3:c.93_97del , LRG_293t1:c.93_97del	NP_000050.2:p.Trp31Ter
XM_011535203.1:c.93_97del	XP_011533505.1:p.Trp31Ter
XM_011535204.1:c.93_97del	XP_011533506.1:p.Trp31Ter
XM_011535205.1:c.93_97del	XP_011533507.1:p.Trp31Ter
NM_000059.4:c.93_97del MANE Select	NP_000050.3:p.Trp31Ter