Canonical Allele Identifier: CA387762989

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 480980
• ClinVar RCV Id: RCV000571672 ; RCV000709342 ; RCV001002292 ; RCV000989090
• dbSNP Id: rs1555289773
• gnomAD v4: 13-32396917-A-G
• MyVariant Identifiers: chr13:g.32971054A>G (hg19) ; chr13:g.32396917A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32396917A>G , CM000675.2:g.32396917A>G	GRCh38
NC_000013.10:g.32971054A>G , CM000675.1:g.32971054A>G	GRCh37
NC_000013.9:g.31869054A>G	NCBI36
NG_012772.3:g.86438A>G , LRG_293:g.86438A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.*44A>G	ENSP00000434898.2:n.*44A>G
ENST00000528762.2:c.*888A>G	ENSP00000433168.2:n.*888A>G
ENST00000530893.7:c.9152A>G	ENSP00000499438.2:p.Asn3051Ser
ENST00000665585.2:c.*1083A>G	ENSP00000499570.2:n.*1083A>G
ENST00000700202.2:c.9470A>G	ENSP00000514856.2:p.Asn3157Ser
ENST00000700202.1:c.1937A>G	ENSP00000514856.1:p.Asn646Ser
ENST00000700203.1:n.1648A>G
ENST00000380152.8:c.9521A>G MANE Select	ENSP00000369497.3:p.Asn3174Ser
ENST00000544455.6:c.9521A>G	ENSP00000439902.1:p.Asn3174Ser
ENST00000614259.2:c.9529A>G	ENSP00000506251.1:n.9529A>G
ENST00000665585.1:c.2399A>G
ENST00000680887.1:c.9521A>G	ENSP00000505508.1:p.Asn3174Ser
ENST00000380152.7:c.9521A>G	ENSP00000369497.3:p.Asn3174Ser
ENST00000470094.1:c.604A>G
ENST00000533776.1:n.109A>G
ENST00000544455.5:c.9521A>G	ENSP00000439902.1:p.Asn3174Ser
NM_000059.3:c.9521A>G , LRG_293t1:c.9521A>G	NP_000050.2:p.Asn3174Ser
XM_011535203.1:c.9521A>G	XP_011533505.1:p.Asn3174Ser
XM_011535204.1:c.9425A>G	XP_011533506.1:p.Asn3142Ser
NM_000059.4:c.9521A>G MANE Select	NP_000050.3:p.Asn3174Ser