Canonical Allele Identifier: CA025642

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 52585
• ClinVar RCV Id: RCV000045516 ; RCV000113931 ; RCV000455611 ; RCV000771458 ; RCV001284112
• dbSNP Id: rs80359090
• ExAC: 13:32944639 A / G
• gnomAD v2: 13-32944639-A-G
• gnomAD v3: 13-32370502-A-G
• gnomAD v4: 13-32370502-A-G
• MyVariant Identifiers: chr13:g.32944639A>G (hg19) ; chr13:g.32370502A>G (hg38)
• PubMed: PMID:10717622

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32370502A>G , CM000675.2:g.32370502A>G	GRCh38
NC_000013.10:g.32944639A>G , CM000675.1:g.32944639A>G	GRCh37
NC_000013.9:g.31842639A>G	NCBI36
NG_012772.3:g.60023A>G , LRG_293:g.60023A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.8432A>G	ENSP00000434898.2:p.Asp2811Gly
ENST00000528762.2:c.8432A>G	ENSP00000433168.2:p.Asp2811Gly
ENST00000530893.7:c.8063A>G	ENSP00000499438.2:p.Asp2688Gly
ENST00000665585.2:c.8432A>G	ENSP00000499570.2:p.Asp2811Gly
ENST00000666593.2:c.8432A>G	ENSP00000499256.2:p.Asp2811Gly
ENST00000700202.2:c.8432A>G	ENSP00000514856.2:p.Asp2811Gly
ENST00000700202.1:c.899A>G	ENSP00000514856.1:p.Asp300Gly
ENST00000380152.8:c.8432A>G MANE Select	ENSP00000369497.3:p.Asp2811Gly
ENST00000544455.6:c.8432A>G	ENSP00000439902.1:p.Asp2811Gly
ENST00000614259.2:c.8440A>G	ENSP00000506251.1:n.8440A>G
ENST00000665585.1:c.997A>G
ENST00000680887.1:c.8432A>G	ENSP00000505508.1:p.Asp2811Gly
ENST00000380152.7:c.8432A>G	ENSP00000369497.3:p.Asp2811Gly
ENST00000544455.5:c.8432A>G	ENSP00000439902.1:p.Asp2811Gly
NM_000059.3:c.8432A>G , LRG_293t1:c.8432A>G	NP_000050.2:p.Asp2811Gly
XM_011535203.1:c.8432A>G	XP_011533505.1:p.Asp2811Gly
XM_011535204.1:c.8336A>G	XP_011533506.1:p.Asp2779Gly
XM_011535205.1:c.8432A>G	XP_011533507.1:p.Asp2811Gly
NM_000059.4:c.8432A>G MANE Select	NP_000050.3:p.Asp2811Gly