Canonical Allele Identifier: CA6941472

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 531454
• ClinVar RCV Id: RCV000637833 ; RCV000989094 ; RCV000771137 ; RCV001528857
• dbSNP Id: rs758307938
• ExAC: 13:32972743 G / GTGAATTATA
• gnomAD v2: 13-32972743-G-GTGAATTATA
• gnomAD v3: 13-32398606-G-GTGAATTATA
• gnomAD v4: 13-32398606-G-GTGAATTATA
• MyVariant Identifiers: chr13:g.32972744_32972745insGAATTATAT (hg19) ; chr13:g.32972743_32972744insTGAATTATA (hg19) ; chr13:g.32398607_32398608insGAATTATAT (hg38) ; chr13:g.32398606_32398607insTGAATTATA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32398607_32398608insGAATTATAT , CM000675.2:g.32398607_32398608insGAATTATAT	GRCh38
NC_000013.10:g.32972744_32972745insGAATTATAT , CM000675.1:g.32972744_32972745insGAATTATAT	GRCh37
NC_000013.9:g.31870744_31870745insGAATTATAT	NCBI36
NG_012772.3:g.88128_88129insGAATTATAT , LRG_293:g.88128_88129insGAATTATAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.*617_*618insGAATTATAT	ENSP00000434898.2:n.*617_*618insGAATTATAT
ENST00000528762.2:c.*1461_*1462insGAATTATAT	ENSP00000433168.2:n.*1461_*1462insGAATTATAT
ENST00000530893.7:c.9725_9726insGAATTATAT	ENSP00000499438.2:p.Val3242_Ser3243insAsnTyrIle
ENST00000665585.2:c.*1656_*1657insGAATTATAT	ENSP00000499570.2:n.*1656_*1657insGAATTATAT
ENST00000700202.2:c.10043_10044insGAATTATAT	ENSP00000514856.2:p.Val3348_Ser3349insAsnTyrIle
ENST00000700202.1:c.2510_2511insGAATTATAT	ENSP00000514856.1:p.Val837_Ser838insAsnTyrIle
ENST00000700203.1:n.2221_2222insGAATTATAT
ENST00000380152.8:c.10094_10095insGAATTATAT MANE Select	ENSP00000369497.3:p.Val3365_Ser3366insAsnTyrIle
ENST00000544455.6:c.10094_10095insGAATTATAT	ENSP00000439902.1:p.Val3365_Ser3366insAsnTyrIle
ENST00000614259.2:c.10102_10103insGAATTATAT	ENSP00000506251.1:n.10102_10103insGAATTATAT
ENST00000680887.1:c.10094_10095insGAATTATAT	ENSP00000505508.1:p.Val3365_Ser3366insAsnTyrIle
ENST00000380152.7:c.10094_10095insGAATTATAT	ENSP00000369497.3:p.Val3365_Ser3366insAsnTyrIle
ENST00000544455.5:c.10094_10095insGAATTATAT	ENSP00000439902.1:p.Val3365_Ser3366insAsnTyrIle
NM_000059.3:c.10094_10095insGAATTATAT , LRG_293t1:c.10094_10095insGAATTATAT	NP_000050.2:p.Val3365_Ser3366insAsnTyrIle
XM_011535203.1:c.10094_10095insGAATTATAT	XP_011533505.1:p.Val3365_Ser3366insAsnTyrIle
XM_011535204.1:c.9998_9999insGAATTATAT	XP_011533506.1:p.Val3333_Ser3334insAsnTyrIle
NM_000059.4:c.10094_10095insGAATTATAT MANE Select	NP_000050.3:p.Val3365_Ser3366insAsnTyrIle