Canonical Allele Identifier: CA019735

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 186334
• ClinVar RCV Id: RCV000165913 ; RCV000222837 ; RCV000662987 ; RCV001362079
• dbSNP Id: rs758636052
• ExAC: 13:32912707 TAAA / T
• gnomAD v2: 13-32912707-TAAA-T
• gnomAD v4: 13-32338570-TAAA-T
• MyVariant Identifiers: chr13:g.32912708_32912710del (hg19) ; chr13:g.32338571_32338573del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32338571_32338573del , CM000675.2:g.32338571_32338573del	GRCh38
NC_000013.10:g.32912708_32912710del , CM000675.1:g.32912708_32912710del	GRCh37
NC_000013.9:g.31810708_31810710del	NCBI36
NG_012772.3:g.28092_28094del , LRG_293:g.28092_28094del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.4216_4218del	ENSP00000434898.2:p.Lys1406del
ENST00000528762.2:c.4216_4218del	ENSP00000433168.2:p.Lys1406del
ENST00000530893.7:c.3847_3849del	ENSP00000499438.2:p.Lys1283del
ENST00000665585.2:c.4216_4218del	ENSP00000499570.2:p.Lys1406del
ENST00000666593.2:c.4216_4218del	ENSP00000499256.2:p.Lys1406del
ENST00000700202.2:c.4216_4218del	ENSP00000514856.2:p.Lys1406del
ENST00000380152.8:c.4216_4218del MANE Select	ENSP00000369497.3:p.Lys1406del
ENST00000544455.6:c.4216_4218del	ENSP00000439902.1:p.Lys1406del
ENST00000614259.2:c.4216_4218del	ENSP00000506251.1:p.Lys1406del
ENST00000680887.1:c.4216_4218del	ENSP00000505508.1:p.Lys1406del
ENST00000380152.7:c.4216_4218del	ENSP00000369497.3:p.Lys1406del
ENST00000544455.5:c.4216_4218del	ENSP00000439902.1:p.Lys1406del
ENST00000614259.1:n.4216_4218del
NM_000059.3:c.4216_4218del , LRG_293t1:c.4216_4218del	NP_000050.2:p.Lys1406del
XM_011535203.1:c.4216_4218del	XP_011533505.1:p.Lys1406del
XM_011535204.1:c.4216_4218del	XP_011533506.1:p.Lys1406del
XM_011535205.1:c.4216_4218del	XP_011533507.1:p.Lys1406del
NM_000059.4:c.4216_4218del MANE Select	NP_000050.3:p.Lys1406del