Canonical Allele Identifier: CA387754264

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 489742
• ClinVar RCV Id: RCV000579736 ; RCV001548511
• dbSNP Id: rs1555280354
• gnomAD v4: 13-32319151-G-A
• MyVariant Identifiers: chr13:g.32893288G>A (hg19) ; chr13:g.32319151G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32319151G>A , CM000675.2:g.32319151G>A	GRCh38
NC_000013.10:g.32893288G>A , CM000675.1:g.32893288G>A	GRCh37
NC_000013.9:g.31791288G>A	NCBI36
NG_012772.3:g.8672G>A , LRG_293:g.8672G>A
NG_017006.2:g.1213C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.142G>A	ENSP00000434898.2:p.Glu48Lys
ENST00000528762.2:c.142G>A	ENSP00000433168.2:p.Glu48Lys
ENST00000530893.7:c.-228G>A	ENSP00000499438.2:n.-228G>A
ENST00000665585.2:c.142G>A	ENSP00000499570.2:p.Glu48Lys
ENST00000666593.2:c.142G>A	ENSP00000499256.2:p.Glu48Lys
ENST00000700202.2:c.142G>A	ENSP00000514856.2:p.Glu48Lys
ENST00000700200.1:n.191+2624G>A
ENST00000700201.1:c.142G>A	ENSP00000514855.1:p.Glu48Lys
ENST00000380152.8:c.142G>A MANE Select	ENSP00000369497.3:p.Glu48Lys
ENST00000544455.6:c.142G>A	ENSP00000439902.1:p.Glu48Lys
ENST00000614259.2:c.142G>A	ENSP00000506251.1:p.Glu48Lys
ENST00000680887.1:c.142G>A	ENSP00000505508.1:p.Glu48Lys
ENST00000380152.7:c.142G>A	ENSP00000369497.3:p.Glu48Lys
ENST00000530893.6:n.340G>A
ENST00000544455.5:c.142G>A	ENSP00000439902.1:p.Glu48Lys
ENST00000614259.1:n.142G>A
NM_000059.3:c.142G>A , LRG_293t1:c.142G>A	NP_000050.2:p.Glu48Lys
XM_011535203.1:c.142G>A	XP_011533505.1:p.Glu48Lys
XM_011535204.1:c.142G>A	XP_011533506.1:p.Glu48Lys
XM_011535205.1:c.142G>A	XP_011533507.1:p.Glu48Lys
NM_000059.4:c.142G>A MANE Select	NP_000050.3:p.Glu48Lys