Canonical Allele Identifier: CA697325069

Gene: BRCA2

Linked Data

• dbSNP Id: rs1388051899
• gnomAD v3: 13-32316900-AAAACTAAGAATTT-A
• gnomAD v4: 13-32316900-AAAACTAAGAATTT-A
• MyVariant Identifiers: chr13:g.32891038_32891050del (hg19) ; chr13:g.32316901_32316913del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32316903_32316915del , CM000675.2:g.32316903_32316915del	GRCh38
NC_000013.10:g.32891040_32891052del , CM000675.1:g.32891040_32891052del	GRCh37
NC_000013.9:g.31789040_31789052del	NCBI36
NG_012772.3:g.6424_6436del , LRG_293:g.6424_6436del
NG_017006.1:g.42_54del
NG_017006.2:g.3451_3463del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.67+376_67+388del	ENSP00000434898.2:n.67+376_67+388del
ENST00000528762.2:c.67+376_67+388del	ENSP00000433168.2:n.67+376_67+388del
ENST00000530893.7:c.-303+380_-303+392del	ENSP00000499438.2:n.-303+380_-303+392del
ENST00000665585.2:c.67+376_67+388del	ENSP00000499570.2:n.67+376_67+388del
ENST00000666593.2:c.67+376_67+388del	ENSP00000499256.2:n.67+376_67+388del
ENST00000700202.2:c.67+376_67+388del	ENSP00000514856.2:n.67+376_67+388del
ENST00000700200.1:n.191+376_191+388del
ENST00000700201.1:c.67+376_67+388del	ENSP00000514855.1:n.67+376_67+388del
ENST00000380152.8:c.67+376_67+388del MANE Select	ENSP00000369497.3:n.67+376_67+388del
ENST00000544455.6:c.67+376_67+388del	ENSP00000439902.1:n.67+376_67+388del
ENST00000614259.2:c.67+376_67+388del	ENSP00000506251.1:n.67+376_67+388del
ENST00000680887.1:c.67+376_67+388del	ENSP00000505508.1:n.67+376_67+388del
ENST00000380152.7:c.67+376_67+388del	ENSP00000369497.3:n.67+376_67+388del
ENST00000530893.6:n.265+380_265+392del
ENST00000544455.5:c.67+376_67+388del	ENSP00000439902.1:n.67+376_67+388del
ENST00000614259.1:n.67+376_67+388del
NM_000059.3:c.67+376_67+388del , LRG_293t1:c.67+376_67+388del	NP_000050.2:n.67+376_67+388del
XM_011535203.1:c.67+376_67+388del	XP_011533505.1:n.67+376_67+388del
XM_011535204.1:c.67+376_67+388del	XP_011533506.1:n.67+376_67+388del
XM_011535205.1:c.67+376_67+388del	XP_011533507.1:n.67+376_67+388del
NM_000059.4:c.67+376_67+388del MANE Select	NP_000050.3:n.67+376_67+388del