Canonical Allele Identifier: CA483271674

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 1767395
• ClinVar RCV Id: RCV002374311
• MyVariant Identifiers: chr13:g.32971094T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32396957T>C , CM000675.2:g.32396957T>C	GRCh38
NC_000013.10:g.32971094T>C , CM000675.1:g.32971094T>C	GRCh37
NC_000013.9:g.31869094T>C	NCBI36
NG_012772.3:g.86478T>C , LRG_293:g.86478T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.*84T>C	ENSP00000434898.2:n.*84T>C
ENST00000528762.2:c.*928T>C	ENSP00000433168.2:n.*928T>C
ENST00000530893.7:c.9192T>C	ENSP00000499438.2:p.Asn3064=
ENST00000665585.2:c.*1123T>C	ENSP00000499570.2:n.*1123T>C
ENST00000700202.2:c.9510T>C	ENSP00000514856.2:p.Asn3170=
ENST00000700202.1:c.1977T>C	ENSP00000514856.1:p.Asn659=
ENST00000700203.1:n.1688T>C
ENST00000380152.8:c.9561T>C MANE Select	ENSP00000369497.3:p.Asn3187=
ENST00000544455.6:c.9561T>C	ENSP00000439902.1:p.Asn3187=
ENST00000614259.2:c.9569T>C	ENSP00000506251.1:n.9569T>C
ENST00000665585.1:c.2439T>C
ENST00000680887.1:c.9561T>C	ENSP00000505508.1:p.Asn3187=
ENST00000380152.7:c.9561T>C	ENSP00000369497.3:p.Asn3187=
ENST00000470094.1:c.644T>C
ENST00000533776.1:n.149T>C
ENST00000544455.5:c.9561T>C	ENSP00000439902.1:p.Asn3187=
NM_000059.3:c.9561T>C , LRG_293t1:c.9561T>C	NP_000050.2:p.Asn3187=
XM_011535203.1:c.9561T>C	XP_011533505.1:p.Asn3187=
XM_011535204.1:c.9465T>C	XP_011533506.1:p.Asn3155=
NM_000059.4:c.9561T>C MANE Select	NP_000050.3:p.Asn3187=