Canonical Allele Identifier: CA2573149360

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 1678936
• ClinVar RCV Id: RCV002226249
• dbSNP Id: rs2137577239

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32362618_32362635del , CM000675.2:g.32362618_32362635del	GRCh38
NC_000013.10:g.32936755_32936772del , CM000675.1:g.32936755_32936772del	GRCh37
NC_000013.9:g.31834755_31834772del	NCBI36
NG_012772.3:g.52139_52156del , LRG_293:g.52139_52156del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.7901_7918del	ENSP00000434898.2:p.Met2634_Pro2639del
ENST00000528762.2:c.7901_7918del	ENSP00000433168.2:p.Met2634_Pro2639del
ENST00000530893.7:c.7532_7549del	ENSP00000499438.2:p.Met2511_Pro2516del
ENST00000665585.2:c.7901_7918del	ENSP00000499570.2:p.Met2634_Pro2639del
ENST00000666593.2:c.7901_7918del	ENSP00000499256.2:p.Met2634_Pro2639del
ENST00000700202.2:c.7901_7918del	ENSP00000514856.2:p.Met2634_Pro2639del
ENST00000700202.1:c.368_385del	ENSP00000514856.1:p.Met123_Pro128del
ENST00000380152.8:c.7901_7918del MANE Select	ENSP00000369497.3:p.Met2634_Pro2639del
ENST00000544455.6:c.7901_7918del	ENSP00000439902.1:p.Met2634_Pro2639del
ENST00000614259.2:c.7909_7926del	ENSP00000506251.1:p.Trp2637_Leu2642del
ENST00000665585.1:c.466_483del
ENST00000680887.1:c.7901_7918del	ENSP00000505508.1:p.Met2634_Pro2639del
ENST00000380152.7:c.7901_7918del	ENSP00000369497.3:p.Met2634_Pro2639del
ENST00000544455.5:c.7901_7918del	ENSP00000439902.1:p.Met2634_Pro2639del
ENST00000614259.1:n.7909_7926del
NM_000059.3:c.7901_7918del , LRG_293t1:c.7901_7918del	NP_000050.2:p.Met2634_Pro2639del
XM_011535203.1:c.7901_7918del	XP_011533505.1:p.Met2634_Pro2639del
XM_011535204.1:c.7805_7822del	XP_011533506.1:p.Met2602_Pro2607del
XM_011535205.1:c.7901_7918del	XP_011533507.1:p.Met2634_Pro2639del
NM_000059.4:c.7901_7918del MANE Select	NP_000050.3:p.Met2634_Pro2639del