Canonical Allele Identifier: CA6940862

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 419860
• ClinVar RCV Id: RCV000480780 ; RCV001233021 ; RCV001553669 ; RCV004003310
• dbSNP Id: rs758071261
• ExAC: 13:32913759 TATATAATGATTCAGG / T
• gnomAD v2: 13-32913759-TATATAATGATTCAGG-T
• gnomAD v3: 13-32339622-TATATAATGATTCAGG-T
• gnomAD v4: 13-32339622-TATATAATGATTCAGG-T
• MyVariant Identifiers: chr13:g.32913764_32913778del (hg19) ; chr13:g.32913760_32913774del (hg19) ; chr13:g.32339627_32339641del (hg38) ; chr13:g.32339623_32339637del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32339627_32339641del , CM000675.2:g.32339627_32339641del	GRCh38
NC_000013.10:g.32913764_32913778del , CM000675.1:g.32913764_32913778del	GRCh37
NC_000013.9:g.31811764_31811778del	NCBI36
NG_012772.3:g.29148_29162del , LRG_293:g.29148_29162del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.5272_5286del	ENSP00000434898.2:p.Asn1758_Tyr1762del
ENST00000528762.2:c.5272_5286del	ENSP00000433168.2:p.Asn1758_Tyr1762del
ENST00000530893.7:c.4903_4917del	ENSP00000499438.2:p.Asn1635_Tyr1639del
ENST00000665585.2:c.5272_5286del	ENSP00000499570.2:p.Asn1758_Tyr1762del
ENST00000666593.2:c.5272_5286del	ENSP00000499256.2:p.Asn1758_Tyr1762del
ENST00000700202.2:c.5272_5286del	ENSP00000514856.2:p.Asn1758_Tyr1762del
ENST00000380152.8:c.5272_5286del MANE Select	ENSP00000369497.3:p.Asn1758_Tyr1762del
ENST00000544455.6:c.5272_5286del	ENSP00000439902.1:p.Asn1758_Tyr1762del
ENST00000614259.2:c.5272_5286del	ENSP00000506251.1:p.Asn1758_Tyr1762del
ENST00000680887.1:c.5272_5286del	ENSP00000505508.1:p.Asn1758_Tyr1762del
ENST00000380152.7:c.5272_5286del	ENSP00000369497.3:p.Asn1758_Tyr1762del
ENST00000544455.5:c.5272_5286del	ENSP00000439902.1:p.Asn1758_Tyr1762del
ENST00000614259.1:n.5272_5286del
NM_000059.3:c.5272_5286del , LRG_293t1:c.5272_5286del	NP_000050.2:p.Asn1758_Tyr1762del
XM_011535203.1:c.5272_5286del	XP_011533505.1:p.Asn1758_Tyr1762del
XM_011535204.1:c.5272_5286del	XP_011533506.1:p.Asn1758_Tyr1762del
XM_011535205.1:c.5272_5286del	XP_011533507.1:p.Asn1758_Tyr1762del
NM_000059.4:c.5272_5286del MANE Select	NP_000050.3:p.Asn1758_Tyr1762del