Canonical Allele Identifier: CA387757339

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 1686523
• ClinVar RCV Id: RCV002247036 ; RCV003154062
• dbSNP Id: rs2137620740
• MyVariant Identifiers: chr13:g.32953647A>T (hg19) ; chr13:g.32379510A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32379510A>T , CM000675.2:g.32379510A>T	GRCh38
NC_000013.10:g.32953647A>T , CM000675.1:g.32953647A>T	GRCh37
NC_000013.9:g.31851647A>T	NCBI36
NG_012772.3:g.69031A>T , LRG_293:g.69031A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.8948A>T	ENSP00000434898.2:p.Asp2983Val
ENST00000528762.2:c.*315A>T	ENSP00000433168.2:n.*315A>T
ENST00000530893.7:c.8579A>T	ENSP00000499438.2:p.Asp2860Val
ENST00000665585.2:c.*510A>T	ENSP00000499570.2:n.*510A>T
ENST00000666593.2:c.8948A>T	ENSP00000499256.2:p.Asp2983Val
ENST00000700202.2:c.8948A>T	ENSP00000514856.2:p.Asp2983Val
ENST00000700202.1:c.1415A>T	ENSP00000514856.1:p.Asp472Val
ENST00000700203.1:n.1075A>T
ENST00000380152.8:c.8948A>T MANE Select	ENSP00000369497.3:p.Asp2983Val
ENST00000544455.6:c.8948A>T	ENSP00000439902.1:p.Asp2983Val
ENST00000614259.2:c.8956A>T	ENSP00000506251.1:n.8956A>T
ENST00000665585.1:c.1826A>T
ENST00000680887.1:c.8948A>T	ENSP00000505508.1:p.Asp2983Val
ENST00000380152.7:c.8948A>T	ENSP00000369497.3:p.Asp2983Val
ENST00000544455.5:c.8948A>T	ENSP00000439902.1:p.Asp2983Val
NM_000059.3:c.8948A>T , LRG_293t1:c.8948A>T	NP_000050.2:p.Asp2983Val
XM_011535203.1:c.8948A>T	XP_011533505.1:p.Asp2983Val
XM_011535204.1:c.8852A>T	XP_011533506.1:p.Asp2951Val
XM_011535205.1:c.8755-240A>T	XP_011533507.1:n.8755-240A>T
NM_000059.4:c.8948A>T MANE Select	NP_000050.3:p.Asp2983Val