Canonical Allele Identifier: CA025091

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 52332
• ClinVar RCV Id: RCV000114119
• dbSNP Id: rs276174893
• MyVariant Identifiers: chr13:g.32905117C>G (hg19) ; chr13:g.32330980C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32330980C>G , CM000675.2:g.32330980C>G	GRCh38
NC_000013.10:g.32905117C>G , CM000675.1:g.32905117C>G	GRCh37
NC_000013.9:g.31803117C>G	NCBI36
NG_012772.3:g.20501C>G , LRG_293:g.20501C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000470094.2:c.743C>G	ENSP00000434898.2:p.Ala248Gly
ENST00000528762.2:c.743C>G	ENSP00000433168.2:p.Ala248Gly
ENST00000530893.7:c.374C>G	ENSP00000499438.2:p.Ala125Gly
ENST00000665585.2:c.743C>G	ENSP00000499570.2:p.Ala248Gly
ENST00000666593.2:c.743C>G	ENSP00000499256.2:p.Ala248Gly
ENST00000700202.2:c.743C>G	ENSP00000514856.2:p.Ala248Gly
ENST00000700201.1:c.*522C>G	ENSP00000514855.1:n.*522C>G
ENST00000380152.8:c.743C>G MANE Select	ENSP00000369497.3:p.Ala248Gly
ENST00000544455.6:c.743C>G	ENSP00000439902.1:p.Ala248Gly
ENST00000614259.2:c.743C>G	ENSP00000506251.1:p.Ala248Gly
ENST00000680887.1:c.743C>G	ENSP00000505508.1:p.Ala248Gly
ENST00000380152.7:c.743C>G	ENSP00000369497.3:p.Ala248Gly
ENST00000530893.6:n.941C>G
ENST00000544455.5:c.743C>G	ENSP00000439902.1:p.Ala248Gly
ENST00000614259.1:n.743C>G
NM_000059.3:c.743C>G , LRG_293t1:c.743C>G	NP_000050.2:p.Ala248Gly
XM_011535203.1:c.743C>G	XP_011533505.1:p.Ala248Gly
XM_011535204.1:c.743C>G	XP_011533506.1:p.Ala248Gly
XM_011535205.1:c.743C>G	XP_011533507.1:p.Ala248Gly
NM_000059.4:c.743C>G MANE Select	NP_000050.3:p.Ala248Gly