Canonical Allele Identifier: CA10589123

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 266664
• ClinVar RCV Id: RCV000256680 ; RCV000805491
• dbSNP Id: rs886040393
• MyVariant Identifiers: chr13:g.32907460_32907461del (hg19) ; chr13:g.32333323_32333324del (hg38)
• PubMed: PMID:24301060

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32333323_32333324del , CM000675.2:g.32333323_32333324del	GRCh38
NC_000013.10:g.32907460_32907461del , CM000675.1:g.32907460_32907461del	GRCh37
NC_000013.9:g.31805460_31805461del	NCBI36
NG_012772.3:g.22844_22845del , LRG_293:g.22844_22845del

Transcript Alleles

HGVS	Amino-acid change
ENST00000470094.2:c.1845_1846del	ENSP00000434898.2:p.Asn615LysfsTer6
ENST00000528762.2:c.1845_1846del	ENSP00000433168.2:p.Asn615LysfsTer6
ENST00000530893.7:c.1476_1477del	ENSP00000499438.2:p.Asn492LysfsTer6
ENST00000665585.2:c.1845_1846del	ENSP00000499570.2:p.Asn615LysfsTer6
ENST00000666593.2:c.1845_1846del	ENSP00000499256.2:p.Asn615LysfsTer6
ENST00000700202.2:c.1845_1846del	ENSP00000514856.2:p.Asn615LysfsTer6
ENST00000380152.8:c.1845_1846del MANE Select	ENSP00000369497.3:p.Asn615LysfsTer6
ENST00000544455.6:c.1845_1846del	ENSP00000439902.1:p.Asn615LysfsTer6
ENST00000614259.2:c.1845_1846del	ENSP00000506251.1:p.Asn615LysfsTer6
ENST00000680887.1:c.1845_1846del	ENSP00000505508.1:p.Asn615LysfsTer6
ENST00000380152.7:c.1845_1846del	ENSP00000369497.3:p.Asn615LysfsTer6
ENST00000544455.5:c.1845_1846del	ENSP00000439902.1:p.Asn615LysfsTer6
ENST00000614259.1:n.1845_1846del
NM_000059.3:c.1845_1846del , LRG_293t1:c.1845_1846del	NP_000050.2:p.Asn615LysfsTer6
XM_011535203.1:c.1845_1846del	XP_011533505.1:p.Asn615LysfsTer6
XM_011535204.1:c.1845_1846del	XP_011533506.1:p.Asn615LysfsTer6
XM_011535205.1:c.1845_1846del	XP_011533507.1:p.Asn615LysfsTer6
NM_000059.4:c.1845_1846del MANE Select	NP_000050.3:p.Asn615LysfsTer6