Canonical Allele Identifier: CA387761213

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 462524
• ClinVar RCV Id: RCV000540722 ; RCV002377052 ; RCV003493632 ; RCV001775858
• dbSNP Id: rs1420566833
• MyVariant Identifiers: chr13:g.32968941C>A (hg19) ; chr13:g.32394804C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32394804C>A , CM000675.2:g.32394804C>A	GRCh38
NC_000013.10:g.32968941C>A , CM000675.1:g.32968941C>A	GRCh37
NC_000013.9:g.31866941C>A	NCBI36
NG_012772.3:g.84325C>A , LRG_293:g.84325C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.9372C>A	ENSP00000434898.2:p.Asn3124Lys
ENST00000528762.2:c.*739C>A	ENSP00000433168.2:n.*739C>A
ENST00000530893.7:c.9003C>A	ENSP00000499438.2:p.Asn3001Lys
ENST00000665585.2:c.*934C>A	ENSP00000499570.2:n.*934C>A
ENST00000666593.2:c.*217C>A	ENSP00000499256.2:n.*217C>A
ENST00000700202.2:c.9321C>A	ENSP00000514856.2:p.Asn3107Lys
ENST00000700202.1:c.1788C>A	ENSP00000514856.1:p.Asn596Lys
ENST00000700203.1:n.1499C>A
ENST00000380152.8:c.9372C>A MANE Select	ENSP00000369497.3:p.Asn3124Lys
ENST00000544455.6:c.9372C>A	ENSP00000439902.1:p.Asn3124Lys
ENST00000614259.2:c.9380C>A	ENSP00000506251.1:n.9380C>A
ENST00000665585.1:c.2250C>A
ENST00000666593.1:c.394C>A	ENSP00000499256.1:n.394C>A
ENST00000680887.1:c.9372C>A	ENSP00000505508.1:p.Asn3124Lys
ENST00000380152.7:c.9372C>A	ENSP00000369497.3:p.Asn3124Lys
ENST00000470094.1:c.329C>A
ENST00000544455.5:c.9372C>A	ENSP00000439902.1:p.Asn3124Lys
NM_000059.3:c.9372C>A , LRG_293t1:c.9372C>A	NP_000050.2:p.Asn3124Lys
XM_011535203.1:c.9372C>A	XP_011533505.1:p.Asn3124Lys
XM_011535204.1:c.9276C>A	XP_011533506.1:p.Asn3092Lys
NM_000059.4:c.9372C>A MANE Select	NP_000050.3:p.Asn3124Lys