Canonical Allele Identifier: CA609453883

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 495500
• ClinVar RCV Id: RCV000587964 ; RCV000772489 ; RCV001079038
• dbSNP Id: rs1472572621
• gnomAD v2: 13-32929439-AT-A
• gnomAD v3: 13-32355302-AT-A
• gnomAD v4: 13-32355302-AT-A
• MyVariant Identifiers: chr13:g.32929442del (hg19) ; chr13:g.32929440del (hg19) ; chr13:g.32355305del (hg38) ; chr13:g.32355303del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32355305del , CM000675.2:g.32355305del	GRCh38
NC_000013.10:g.32929442del , CM000675.1:g.32929442del	GRCh37
NC_000013.9:g.31827442del	NCBI36
NG_012772.3:g.44826del , LRG_293:g.44826del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.7435+17del	ENSP00000434898.2:n.7435+17del
ENST00000528762.2:c.7435+17del	ENSP00000433168.2:n.7435+17del
ENST00000530893.7:c.7066+17del	ENSP00000499438.2:n.7066+17del
ENST00000665585.2:c.7435+17del	ENSP00000499570.2:n.7435+17del
ENST00000666593.2:c.7435+17del	ENSP00000499256.2:n.7435+17del
ENST00000700202.2:c.7435+17del	ENSP00000514856.2:n.7435+17del
ENST00000380152.8:c.7435+17del MANE Select	ENSP00000369497.3:n.7435+17del
ENST00000544455.6:c.7435+17del	ENSP00000439902.1:n.7435+17del
ENST00000614259.2:c.7435+17del	ENSP00000506251.1:n.7435+17del
ENST00000680887.1:c.7435+17del	ENSP00000505508.1:n.7435+17del
ENST00000380152.7:c.7435+17del	ENSP00000369497.3:n.7435+17del
ENST00000544455.5:c.7435+17del	ENSP00000439902.1:n.7435+17del
ENST00000614259.1:n.7435+17del
NM_000059.3:c.7435+17del , LRG_293t1:c.7435+17del	NP_000050.2:n.7435+17del
XM_011535203.1:c.7435+17del	XP_011533505.1:n.7435+17del
XM_011535204.1:c.7339+17del	XP_011533506.1:n.7339+17del
XM_011535205.1:c.7435+17del	XP_011533507.1:n.7435+17del
NM_000059.4:c.7435+17del MANE Select	NP_000050.3:n.7435+17del