Canonical Allele Identifier: CA697347920

Gene: BRCA2

Linked Data

• dbSNP Id: rs1164915529
• gnomAD v3: 13-32354645-ACT-A
• gnomAD v4: 13-32354645-ACT-A
• MyVariant Identifiers: chr13:g.32928783_32928784del (hg19) ; chr13:g.32354646_32354647del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32354650_32354651del , CM000675.2:g.32354650_32354651del	GRCh38
NC_000013.10:g.32928787_32928788del , CM000675.1:g.32928787_32928788del	GRCh37
NC_000013.9:g.31826787_31826788del	NCBI36
NG_012772.3:g.44171_44172del , LRG_293:g.44171_44172del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.7008-211_7008-210del	ENSP00000434898.2:n.7008-211_7008-210del
ENST00000528762.2:c.7008-211_7008-210del	ENSP00000433168.2:n.7008-211_7008-210del
ENST00000530893.7:c.6639-211_6639-210del	ENSP00000499438.2:n.6639-211_6639-210del
ENST00000665585.2:c.7008-211_7008-210del	ENSP00000499570.2:n.7008-211_7008-210del
ENST00000666593.2:c.7008-211_7008-210del	ENSP00000499256.2:n.7008-211_7008-210del
ENST00000700202.2:c.7008-211_7008-210del	ENSP00000514856.2:n.7008-211_7008-210del
ENST00000380152.8:c.7008-211_7008-210del MANE Select	ENSP00000369497.3:n.7008-211_7008-210del
ENST00000544455.6:c.7008-211_7008-210del	ENSP00000439902.1:n.7008-211_7008-210del
ENST00000614259.2:c.7008-211_7008-210del	ENSP00000506251.1:n.7008-211_7008-210del
ENST00000680887.1:c.7008-211_7008-210del	ENSP00000505508.1:n.7008-211_7008-210del
ENST00000380152.7:c.7008-211_7008-210del	ENSP00000369497.3:n.7008-211_7008-210del
ENST00000544455.5:c.7008-211_7008-210del	ENSP00000439902.1:n.7008-211_7008-210del
ENST00000614259.1:n.7008-211_7008-210del
NM_000059.3:c.7008-211_7008-210del , LRG_293t1:c.7008-211_7008-210del	NP_000050.2:n.7008-211_7008-210del
XM_011535203.1:c.7008-211_7008-210del	XP_011533505.1:n.7008-211_7008-210del
XM_011535204.1:c.6912-211_6912-210del	XP_011533506.1:n.6912-211_6912-210del
XM_011535205.1:c.7008-211_7008-210del	XP_011533507.1:n.7008-211_7008-210del
NM_000059.4:c.7008-211_7008-210del MANE Select	NP_000050.3:n.7008-211_7008-210del