Canonical Allele Identifier: CA387761196

Gene: BRCA2

Linked Data

• dbSNP Id: rs587781901
• MyVariant Identifiers: chr13:g.32968938C>G (hg19) ; chr13:g.32394801C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32394801C>G , CM000675.2:g.32394801C>G	GRCh38
NC_000013.10:g.32968938C>G , CM000675.1:g.32968938C>G	GRCh37
NC_000013.9:g.31866938C>G	NCBI36
NG_012772.3:g.84322C>G , LRG_293:g.84322C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.9369C>G	ENSP00000434898.2:p.Ser3123Arg
ENST00000528762.2:c.*736C>G	ENSP00000433168.2:n.*736C>G
ENST00000530893.7:c.9000C>G	ENSP00000499438.2:p.Ser3000Arg
ENST00000665585.2:c.*931C>G	ENSP00000499570.2:n.*931C>G
ENST00000666593.2:c.*214C>G	ENSP00000499256.2:n.*214C>G
ENST00000700202.2:c.9318C>G	ENSP00000514856.2:p.Ser3106Arg
ENST00000700202.1:c.1785C>G	ENSP00000514856.1:p.Ser595Arg
ENST00000700203.1:n.1496C>G
ENST00000380152.8:c.9369C>G MANE Select	ENSP00000369497.3:p.Ser3123Arg
ENST00000544455.6:c.9369C>G	ENSP00000439902.1:p.Ser3123Arg
ENST00000614259.2:c.9377C>G	ENSP00000506251.1:n.9377C>G
ENST00000665585.1:c.2247C>G
ENST00000666593.1:c.391C>G	ENSP00000499256.1:n.391C>G
ENST00000680887.1:c.9369C>G	ENSP00000505508.1:p.Ser3123Arg
ENST00000380152.7:c.9369C>G	ENSP00000369497.3:p.Ser3123Arg
ENST00000470094.1:c.326C>G
ENST00000544455.5:c.9369C>G	ENSP00000439902.1:p.Ser3123Arg
NM_000059.3:c.9369C>G , LRG_293t1:c.9369C>G	NP_000050.2:p.Ser3123Arg
XM_011535203.1:c.9369C>G	XP_011533505.1:p.Ser3123Arg
XM_011535204.1:c.9273C>G	XP_011533506.1:p.Ser3091Arg
NM_000059.4:c.9369C>G MANE Select	NP_000050.3:p.Ser3123Arg