Canonical Allele Identifier: CA697333225

Gene: BRCA2

Linked Data

• dbSNP Id: rs1404873584
• gnomAD v3: 13-32330804-GGTTGATTGCAGATAACTGAAATCACCAAAA-G
• gnomAD v4: 13-32330804-GGTTGATTGCAGATAACTGAAATCACCAAAA-G
• MyVariant Identifiers: chr13:g.32904942_32904971del (hg19) ; chr13:g.32330805_32330834del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32330807_32330836del , CM000675.2:g.32330807_32330836del	GRCh38
NC_000013.10:g.32904944_32904973del , CM000675.1:g.32904944_32904973del	GRCh37
NC_000013.9:g.31802944_31802973del	NCBI36
NG_012772.3:g.20328_20357del , LRG_293:g.20328_20357del

Transcript Alleles

HGVS	Amino-acid change
ENST00000470094.2:c.682-112_682-83del	ENSP00000434898.2:n.682-112_682-83del
ENST00000528762.2:c.682-112_682-83del	ENSP00000433168.2:n.682-112_682-83del
ENST00000530893.7:c.313-112_313-83del	ENSP00000499438.2:n.313-112_313-83del
ENST00000665585.2:c.682-112_682-83del	ENSP00000499570.2:n.682-112_682-83del
ENST00000666593.2:c.682-112_682-83del	ENSP00000499256.2:n.682-112_682-83del
ENST00000700202.2:c.682-112_682-83del	ENSP00000514856.2:n.682-112_682-83del
ENST00000700201.1:c.*461-112_*461-83del	ENSP00000514855.1:n.*461-112_*461-83del
ENST00000380152.8:c.682-112_682-83del MANE Select	ENSP00000369497.3:n.682-112_682-83del
ENST00000544455.6:c.682-112_682-83del	ENSP00000439902.1:n.682-112_682-83del
ENST00000614259.2:c.682-112_682-83del	ENSP00000506251.1:n.682-112_682-83del
ENST00000680887.1:c.682-112_682-83del	ENSP00000505508.1:n.682-112_682-83del
ENST00000380152.7:c.682-112_682-83del	ENSP00000369497.3:n.682-112_682-83del
ENST00000530893.6:n.880-112_880-83del
ENST00000544455.5:c.682-112_682-83del	ENSP00000439902.1:n.682-112_682-83del
ENST00000614259.1:n.682-112_682-83del
NM_000059.3:c.682-112_682-83del , LRG_293t1:c.682-112_682-83del	NP_000050.2:n.682-112_682-83del
XM_011535203.1:c.682-112_682-83del	XP_011533505.1:n.682-112_682-83del
XM_011535204.1:c.682-112_682-83del	XP_011533506.1:n.682-112_682-83del
XM_011535205.1:c.682-112_682-83del	XP_011533507.1:n.682-112_682-83del
NM_000059.4:c.682-112_682-83del MANE Select	NP_000050.3:n.682-112_682-83del