Canonical Allele Identifier: CA387758495

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 2751818
• ClinVar RCV Id: RCV003531194
• dbSNP Id: rs2137625584
• gnomAD v4: 13-32380114-A-G
• MyVariant Identifiers: chr13:g.32954251A>G (hg19) ; chr13:g.32380114A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32380114A>G , CM000675.2:g.32380114A>G	GRCh38
NC_000013.10:g.32954251A>G , CM000675.1:g.32954251A>G	GRCh37
NC_000013.9:g.31852251A>G	NCBI36
NG_012772.3:g.69635A>G , LRG_293:g.69635A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.9225A>G	ENSP00000434898.2:p.Ile3075Met
ENST00000528762.2:c.*592A>G	ENSP00000433168.2:n.*592A>G
ENST00000530893.7:c.8856A>G	ENSP00000499438.2:p.Ile2952Met
ENST00000665585.2:c.*787A>G	ENSP00000499570.2:n.*787A>G
ENST00000666593.2:c.9225A>G	ENSP00000499256.2:p.Ile3075Met
ENST00000700202.2:c.9174A>G	ENSP00000514856.2:p.Ile3058Met
ENST00000700202.1:c.1641A>G	ENSP00000514856.1:p.Ile547Met
ENST00000700203.1:n.1352A>G
ENST00000380152.8:c.9225A>G MANE Select	ENSP00000369497.3:p.Ile3075Met
ENST00000544455.6:c.9225A>G	ENSP00000439902.1:p.Ile3075Met
ENST00000614259.2:c.9233A>G	ENSP00000506251.1:n.9233A>G
ENST00000665585.1:c.2103A>G
ENST00000666593.1:c.108A>G	ENSP00000499256.1:p.Ile36Met
ENST00000680887.1:c.9225A>G	ENSP00000505508.1:p.Ile3075Met
ENST00000380152.7:c.9225A>G	ENSP00000369497.3:p.Ile3075Met
ENST00000470094.1:c.182A>G
ENST00000544455.5:c.9225A>G	ENSP00000439902.1:p.Ile3075Met
NM_000059.3:c.9225A>G , LRG_293t1:c.9225A>G	NP_000050.2:p.Ile3075Met
XM_011535203.1:c.9225A>G	XP_011533505.1:p.Ile3075Met
XM_011535204.1:c.9129A>G	XP_011533506.1:p.Ile3043Met
NM_000059.4:c.9225A>G MANE Select	NP_000050.3:p.Ile3075Met