Canonical Allele Identifier: CA16619800

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 418950
• ClinVar RCV Id: RCV000480739
• dbSNP Id: rs1064793547
• MyVariant Identifiers: chr13:g.32972589_32972592del (hg19) ; chr13:g.32398452_32398455del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32398452_32398455del , CM000675.2:g.32398452_32398455del	GRCh38
NC_000013.10:g.32972589_32972592del , CM000675.1:g.32972589_32972592del	GRCh37
NC_000013.9:g.31870589_31870592del	NCBI36
NG_012772.3:g.87973_87976del , LRG_293:g.87973_87976del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.*462_*465del	ENSP00000434898.2:n.*462_*465del
ENST00000528762.2:c.*1306_*1309del	ENSP00000433168.2:n.*1306_*1309del
ENST00000530893.7:c.9570_9573del	ENSP00000499438.2:p.Lys3192AsnfsTer2
ENST00000665585.2:c.*1501_*1504del	ENSP00000499570.2:n.*1501_*1504del
ENST00000700202.2:c.9888_9891del	ENSP00000514856.2:p.Lys3298AsnfsTer2
ENST00000700202.1:c.2355_2358del	ENSP00000514856.1:p.Lys787AsnfsTer2
ENST00000700203.1:n.2066_2069del
ENST00000380152.8:c.9939_9942del MANE Select	ENSP00000369497.3:p.Lys3315AsnfsTer2
ENST00000544455.6:c.9939_9942del	ENSP00000439902.1:p.Lys3315AsnfsTer2
ENST00000614259.2:c.9947_9950del	ENSP00000506251.1:n.9947_9950del
ENST00000680887.1:c.9939_9942del	ENSP00000505508.1:p.Lys3315AsnfsTer2
ENST00000380152.7:c.9939_9942del	ENSP00000369497.3:p.Lys3315AsnfsTer2
ENST00000544455.5:c.9939_9942del	ENSP00000439902.1:p.Lys3315AsnfsTer2
NM_000059.3:c.9939_9942del , LRG_293t1:c.9939_9942del	NP_000050.2:p.Lys3315AsnfsTer2
XM_011535203.1:c.9939_9942del	XP_011533505.1:p.Lys3315AsnfsTer2
XM_011535204.1:c.9843_9846del	XP_011533506.1:p.Lys3283AsnfsTer2
NM_000059.4:c.9939_9942del MANE Select	NP_000050.3:p.Lys3315AsnfsTer2