Canonical Allele Identifier: CA387768335

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 462221
• ClinVar RCV Id: RCV000527103 ; RCV000563670 ; RCV000612812 ; RCV000985458 ; RCV003999052
• dbSNP Id: rs889208749
• MyVariant Identifiers: chr13:g.32972837G>A (hg19) ; chr13:g.32398700G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32398700G>A , CM000675.2:g.32398700G>A	GRCh38
NC_000013.10:g.32972837G>A , CM000675.1:g.32972837G>A	GRCh37
NC_000013.9:g.31870837G>A	NCBI36
NG_012772.3:g.88221G>A , LRG_293:g.88221G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.*710G>A	ENSP00000434898.2:n.*710G>A
ENST00000528762.2:c.*1554G>A	ENSP00000433168.2:n.*1554G>A
ENST00000530893.7:c.9818G>A	ENSP00000499438.2:p.Ser3273Asn
ENST00000665585.2:c.*1749G>A	ENSP00000499570.2:n.*1749G>A
ENST00000700202.2:c.10136G>A	ENSP00000514856.2:p.Ser3379Asn
ENST00000700202.1:c.2603G>A	ENSP00000514856.1:p.Ser868Asn
ENST00000700203.1:n.2314G>A
ENST00000380152.8:c.10187G>A MANE Select	ENSP00000369497.3:p.Ser3396Asn
ENST00000544455.6:c.10187G>A	ENSP00000439902.1:p.Ser3396Asn
ENST00000614259.2:c.10195G>A	ENSP00000506251.1:n.10195G>A
ENST00000680887.1:c.10187G>A	ENSP00000505508.1:p.Ser3396Asn
ENST00000380152.7:c.10187G>A	ENSP00000369497.3:p.Ser3396Asn
ENST00000544455.5:c.10187G>A	ENSP00000439902.1:p.Ser3396Asn
NM_000059.3:c.10187G>A , LRG_293t1:c.10187G>A	NP_000050.2:p.Ser3396Asn
XM_011535203.1:c.10187G>A	XP_011533505.1:p.Ser3396Asn
XM_011535204.1:c.10091G>A	XP_011533506.1:p.Ser3364Asn
NM_000059.4:c.10187G>A MANE Select	NP_000050.3:p.Ser3396Asn