Canonical Allele Identifier: CA387752389

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 491350
• ClinVar RCV Id: RCV000582573 ; RCV001284109 ; RCV003767300
• dbSNP Id: rs80359076
• MyVariant Identifiers: chr13:g.32944558G>T (hg19) ; chr13:g.32370421G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32370421G>T , CM000675.2:g.32370421G>T	GRCh38
NC_000013.10:g.32944558G>T , CM000675.1:g.32944558G>T	GRCh37
NC_000013.9:g.31842558G>T	NCBI36
NG_012772.3:g.59942G>T , LRG_293:g.59942G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.8351G>T	ENSP00000434898.2:p.Arg2784Leu
ENST00000528762.2:c.8351G>T	ENSP00000433168.2:p.Arg2784Leu
ENST00000530893.7:c.7982G>T	ENSP00000499438.2:p.Arg2661Leu
ENST00000665585.2:c.8351G>T	ENSP00000499570.2:p.Arg2784Leu
ENST00000666593.2:c.8351G>T	ENSP00000499256.2:p.Arg2784Leu
ENST00000700202.2:c.8351G>T	ENSP00000514856.2:p.Arg2784Leu
ENST00000700202.1:c.818G>T	ENSP00000514856.1:p.Arg273Leu
ENST00000380152.8:c.8351G>T MANE Select	ENSP00000369497.3:p.Arg2784Leu
ENST00000544455.6:c.8351G>T	ENSP00000439902.1:p.Arg2784Leu
ENST00000614259.2:c.8359G>T	ENSP00000506251.1:n.8359G>T
ENST00000665585.1:c.916G>T
ENST00000680887.1:c.8351G>T	ENSP00000505508.1:p.Arg2784Leu
ENST00000380152.7:c.8351G>T	ENSP00000369497.3:p.Arg2784Leu
ENST00000544455.5:c.8351G>T	ENSP00000439902.1:p.Arg2784Leu
NM_000059.3:c.8351G>T , LRG_293t1:c.8351G>T	NP_000050.2:p.Arg2784Leu
XM_011535203.1:c.8351G>T	XP_011533505.1:p.Arg2784Leu
XM_011535204.1:c.8255G>T	XP_011533506.1:p.Arg2752Leu
XM_011535205.1:c.8351G>T	XP_011533507.1:p.Arg2784Leu
NM_000059.4:c.8351G>T MANE Select	NP_000050.3:p.Arg2784Leu