Canonical Allele Identifier: CA022385

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 142638
• ClinVar RCV Id: RCV000131974 ; RCV000241399
• dbSNP Id: rs80359515
• MyVariant Identifiers: chr13:g.32913962_32913963del (hg19) ; chr13:g.32339825_32339826del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32339825_32339826del , CM000675.2:g.32339825_32339826del	GRCh38
NC_000013.10:g.32913962_32913963del , CM000675.1:g.32913962_32913963del	GRCh37
NC_000013.9:g.31811962_31811963del	NCBI36
NG_012772.3:g.29346_29347del , LRG_293:g.29346_29347del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.5470_5471del	ENSP00000434898.2:p.Asn1824CysfsTer4
ENST00000528762.2:c.5470_5471del	ENSP00000433168.2:p.Asn1824CysfsTer4
ENST00000530893.7:c.5101_5102del	ENSP00000499438.2:p.Asn1701CysfsTer4
ENST00000665585.2:c.5470_5471del	ENSP00000499570.2:p.Asn1824CysfsTer4
ENST00000666593.2:c.5470_5471del	ENSP00000499256.2:p.Asn1824CysfsTer4
ENST00000700202.2:c.5470_5471del	ENSP00000514856.2:p.Asn1824CysfsTer4
ENST00000380152.8:c.5470_5471del MANE Select	ENSP00000369497.3:p.Asn1824CysfsTer4
ENST00000544455.6:c.5470_5471del	ENSP00000439902.1:p.Asn1824CysfsTer4
ENST00000614259.2:c.5470_5471del	ENSP00000506251.1:p.Asn1824CysfsTer4
ENST00000680887.1:c.5470_5471del	ENSP00000505508.1:p.Asn1824CysfsTer4
ENST00000380152.7:c.5470_5471del	ENSP00000369497.3:p.Asn1824CysfsTer4
ENST00000544455.5:c.5470_5471del	ENSP00000439902.1:p.Asn1824CysfsTer4
ENST00000614259.1:n.5470_5471del
NM_000059.3:c.5470_5471del , LRG_293t1:c.5470_5471del	NP_000050.2:p.Asn1824CysfsTer4
XM_011535203.1:c.5470_5471del	XP_011533505.1:p.Asn1824CysfsTer4
XM_011535204.1:c.5470_5471del	XP_011533506.1:p.Asn1824CysfsTer4
XM_011535205.1:c.5470_5471del	XP_011533507.1:p.Asn1824CysfsTer4
NM_000059.4:c.5470_5471del MANE Select	NP_000050.3:p.Asn1824CysfsTer4