Canonical Allele Identifier: CA2573149235

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 1508369
• ClinVar RCV Id: RCV002016055
• dbSNP Id: rs2137623003

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32379845_32379856del , CM000675.2:g.32379845_32379856del	GRCh38
NC_000013.10:g.32953982_32953993del , CM000675.1:g.32953982_32953993del	GRCh37
NC_000013.9:g.31851982_31851993del	NCBI36
NG_012772.3:g.69366_69377del , LRG_293:g.69366_69377del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.9049_9060del	ENSP00000434898.2:p.Lys3017_Ser3020del
ENST00000528762.2:c.*416_*427del	ENSP00000433168.2:n.*416_*427del
ENST00000530893.7:c.8680_8691del	ENSP00000499438.2:p.Lys2894_Ser2897del
ENST00000665585.2:c.*611_*622del	ENSP00000499570.2:n.*611_*622del
ENST00000666593.2:c.9049_9060del	ENSP00000499256.2:p.Lys3017_Ser3020del
ENST00000700202.2:c.8998_9009del	ENSP00000514856.2:p.Lys3000_Ser3003del
ENST00000700202.1:c.1465_1476del	ENSP00000514856.1:p.Lys489_Ser492del
ENST00000700203.1:n.1176_1187del
ENST00000380152.8:c.9049_9060del MANE Select	ENSP00000369497.3:p.Lys3017_Ser3020del
ENST00000544455.6:c.9049_9060del	ENSP00000439902.1:p.Lys3017_Ser3020del
ENST00000614259.2:c.9057_9068del	ENSP00000506251.1:n.9057_9068del
ENST00000665585.1:c.1927_1938del
ENST00000680887.1:c.9049_9060del	ENSP00000505508.1:p.Lys3017_Ser3020del
ENST00000380152.7:c.9049_9060del	ENSP00000369497.3:p.Lys3017_Ser3020del
ENST00000544455.5:c.9049_9060del	ENSP00000439902.1:p.Lys3017_Ser3020del
NM_000059.3:c.9049_9060del , LRG_293t1:c.9049_9060del	NP_000050.2:p.Lys3017_Ser3020del
XM_011535203.1:c.9049_9060del	XP_011533505.1:p.Lys3017_Ser3020del
XM_011535204.1:c.8953_8964del	XP_011533506.1:p.Lys2985_Ser2988del
NM_000059.4:c.9049_9060del MANE Select	NP_000050.3:p.Lys3017_Ser3020del