Canonical Allele Identifier: CA483439903

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 531510
• ClinVar RCV Id: RCV000637939 ; RCV000773280
• dbSNP Id: rs1555289905
• MyVariant Identifiers: chr13:g.32972307T>C (hg19) ; chr13:g.32398170T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32398170T>C , CM000675.2:g.32398170T>C	GRCh38
NC_000013.10:g.32972307T>C , CM000675.1:g.32972307T>C	GRCh37
NC_000013.9:g.31870307T>C	NCBI36
NG_012772.3:g.87691T>C , LRG_293:g.87691T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000470094.2:c.*180T>C	ENSP00000434898.2:n.*180T>C
ENST00000528762.2:c.*1024T>C	ENSP00000433168.2:n.*1024T>C
ENST00000530893.7:c.9288T>C	ENSP00000499438.2:p.Ser3096=
ENST00000665585.2:c.*1219T>C	ENSP00000499570.2:n.*1219T>C
ENST00000700202.2:c.9606T>C	ENSP00000514856.2:p.Ser3202=
ENST00000700202.1:c.2073T>C	ENSP00000514856.1:p.Ser691=
ENST00000700203.1:n.1784T>C
ENST00000380152.8:c.9657T>C MANE Select	ENSP00000369497.3:p.Ser3219=
ENST00000544455.6:c.9657T>C	ENSP00000439902.1:p.Ser3219=
ENST00000614259.2:c.9665T>C	ENSP00000506251.1:n.9665T>C
ENST00000665585.1:c.2535T>C
ENST00000680887.1:c.9657T>C	ENSP00000505508.1:p.Ser3219=
ENST00000380152.7:c.9657T>C	ENSP00000369497.3:p.Ser3219=
ENST00000470094.1:c.740T>C
ENST00000533776.1:n.245T>C
ENST00000544455.5:c.9657T>C	ENSP00000439902.1:p.Ser3219=
NM_000059.3:c.9657T>C , LRG_293t1:c.9657T>C	NP_000050.2:p.Ser3219=
XM_011535203.1:c.9657T>C	XP_011533505.1:p.Ser3219=
XM_011535204.1:c.9561T>C	XP_011533506.1:p.Ser3187=
NM_000059.4:c.9657T>C MANE Select	NP_000050.3:p.Ser3219=