Canonical Allele Identifier: CA387752644

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 489789
• ClinVar RCV Id: RCV000579673 ; RCV001194437 ; RCV002529092
• dbSNP Id: rs80359099
• MyVariant Identifiers: chr13:g.32944692C>A (hg19) ; chr13:g.32370555C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32370555C>A , CM000675.2:g.32370555C>A	GRCh38
NC_000013.10:g.32944692C>A , CM000675.1:g.32944692C>A	GRCh37
NC_000013.9:g.31842692C>A	NCBI36
NG_012772.3:g.60076C>A , LRG_293:g.60076C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.8485C>A	ENSP00000434898.2:p.Gln2829Lys
ENST00000528762.2:c.8485C>A	ENSP00000433168.2:p.Gln2829Lys
ENST00000530893.7:c.8116C>A	ENSP00000499438.2:p.Gln2706Lys
ENST00000665585.2:c.8485C>A	ENSP00000499570.2:p.Gln2829Lys
ENST00000666593.2:c.8485C>A	ENSP00000499256.2:p.Gln2829Lys
ENST00000700202.2:c.8485C>A	ENSP00000514856.2:p.Gln2829Lys
ENST00000700202.1:c.952C>A	ENSP00000514856.1:p.Gln318Lys
ENST00000380152.8:c.8485C>A MANE Select	ENSP00000369497.3:p.Gln2829Lys
ENST00000544455.6:c.8485C>A	ENSP00000439902.1:p.Gln2829Lys
ENST00000614259.2:c.8493C>A	ENSP00000506251.1:n.8493C>A
ENST00000665585.1:c.1050C>A
ENST00000680887.1:c.8485C>A	ENSP00000505508.1:p.Gln2829Lys
ENST00000380152.7:c.8485C>A	ENSP00000369497.3:p.Gln2829Lys
ENST00000544455.5:c.8485C>A	ENSP00000439902.1:p.Gln2829Lys
NM_000059.3:c.8485C>A , LRG_293t1:c.8485C>A	NP_000050.2:p.Gln2829Lys
XM_011535203.1:c.8485C>A	XP_011533505.1:p.Gln2829Lys
XM_011535204.1:c.8389C>A	XP_011533506.1:p.Gln2797Lys
XM_011535205.1:c.8485C>A	XP_011533507.1:p.Gln2829Lys
NM_000059.4:c.8485C>A MANE Select	NP_000050.3:p.Gln2829Lys