Canonical Allele Identifier: CA6940591

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 254499
• ClinVar RCV Id: RCV000241395
• dbSNP Id: rs770648856
• ExAC: 13:32910769 TTTATA / T
• gnomAD v2: 13-32910769-TTTATA-T
• gnomAD v3: 13-32336632-TTTATA-T
• gnomAD v4: 13-32336632-TTTATA-T
• MyVariant Identifiers: chr13:g.32910771_32910775del (hg19) ; chr13:g.32910770_32910774del (hg19) ; chr13:g.32336634_32336638del (hg38) ; chr13:g.32336633_32336637del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32336634_32336638del , CM000675.2:g.32336634_32336638del	GRCh38
NC_000013.10:g.32910771_32910775del , CM000675.1:g.32910771_32910775del	GRCh37
NC_000013.9:g.31808771_31808775del	NCBI36
NG_012772.3:g.26155_26159del , LRG_293:g.26155_26159del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.2279_2283del	ENSP00000434898.2:p.Leu760Ter
ENST00000528762.2:c.2279_2283del	ENSP00000433168.2:p.Leu760Ter
ENST00000530893.7:c.1910_1914del	ENSP00000499438.2:p.Leu637Ter
ENST00000665585.2:c.2279_2283del	ENSP00000499570.2:p.Leu760Ter
ENST00000666593.2:c.2279_2283del	ENSP00000499256.2:p.Leu760Ter
ENST00000700202.2:c.2279_2283del	ENSP00000514856.2:p.Leu760Ter
ENST00000380152.8:c.2279_2283del MANE Select	ENSP00000369497.3:p.Leu760Ter
ENST00000544455.6:c.2279_2283del	ENSP00000439902.1:p.Leu760Ter
ENST00000614259.2:c.2279_2283del	ENSP00000506251.1:p.Leu760Ter
ENST00000680887.1:c.2279_2283del	ENSP00000505508.1:p.Leu760Ter
ENST00000380152.7:c.2279_2283del	ENSP00000369497.3:p.Leu760Ter
ENST00000544455.5:c.2279_2283del	ENSP00000439902.1:p.Leu760Ter
ENST00000614259.1:n.2279_2283del
NM_000059.3:c.2279_2283del , LRG_293t1:c.2279_2283del	NP_000050.2:p.Leu760Ter
XM_011535203.1:c.2279_2283del	XP_011533505.1:p.Leu760Ter
XM_011535204.1:c.2279_2283del	XP_011533506.1:p.Leu760Ter
XM_011535205.1:c.2279_2283del	XP_011533507.1:p.Leu760Ter
NM_000059.4:c.2279_2283del MANE Select	NP_000050.3:p.Leu760Ter