Canonical Allele Identifier: CA16619797

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 421132
• ClinVar RCV Id: RCV000483796
• dbSNP Id: rs1064794931
• MyVariant Identifiers: chr13:g.32972516T>G (hg19) ; chr13:g.32398379T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32398379T>G , CM000675.2:g.32398379T>G	GRCh38
NC_000013.10:g.32972516T>G , CM000675.1:g.32972516T>G	GRCh37
NC_000013.9:g.31870516T>G	NCBI36
NG_012772.3:g.87900T>G , LRG_293:g.87900T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.*389T>G	ENSP00000434898.2:n.*389T>G
ENST00000528762.2:c.*1233T>G	ENSP00000433168.2:n.*1233T>G
ENST00000530893.7:c.9497T>G	ENSP00000499438.2:p.Phe3166Cys
ENST00000665585.2:c.*1428T>G	ENSP00000499570.2:n.*1428T>G
ENST00000700202.2:c.9815T>G	ENSP00000514856.2:p.Phe3272Cys
ENST00000700202.1:c.2282T>G	ENSP00000514856.1:p.Phe761Cys
ENST00000700203.1:n.1993T>G
ENST00000380152.8:c.9866T>G MANE Select	ENSP00000369497.3:p.Phe3289Cys
ENST00000544455.6:c.9866T>G	ENSP00000439902.1:p.Phe3289Cys
ENST00000614259.2:c.9874T>G	ENSP00000506251.1:n.9874T>G
ENST00000680887.1:c.9866T>G	ENSP00000505508.1:p.Phe3289Cys
ENST00000380152.7:c.9866T>G	ENSP00000369497.3:p.Phe3289Cys
ENST00000533776.1:n.454T>G
ENST00000544455.5:c.9866T>G	ENSP00000439902.1:p.Phe3289Cys
NM_000059.3:c.9866T>G , LRG_293t1:c.9866T>G	NP_000050.2:p.Phe3289Cys
XM_011535203.1:c.9866T>G	XP_011533505.1:p.Phe3289Cys
XM_011535204.1:c.9770T>G	XP_011533506.1:p.Phe3257Cys
NM_000059.4:c.9866T>G MANE Select	NP_000050.3:p.Phe3289Cys