Canonical Allele Identifier: CA387761786

Gene: BRCA2

Linked Data

• dbSNP Id: rs80359221
• MyVariant Identifiers: chr13:g.32969046C>G (hg19) ; chr13:g.32394909C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32394909C>G , CM000675.2:g.32394909C>G	GRCh38
NC_000013.10:g.32969046C>G , CM000675.1:g.32969046C>G	GRCh37
NC_000013.9:g.31867046C>G	NCBI36
NG_012772.3:g.84430C>G , LRG_293:g.84430C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.9477C>G	ENSP00000434898.2:p.Phe3159Leu
ENST00000528762.2:c.*844C>G	ENSP00000433168.2:n.*844C>G
ENST00000530893.7:c.9108C>G	ENSP00000499438.2:p.Phe3036Leu
ENST00000665585.2:c.*1039C>G	ENSP00000499570.2:n.*1039C>G
ENST00000666593.2:c.*322C>G	ENSP00000499256.2:n.*322C>G
ENST00000700202.2:c.9426C>G	ENSP00000514856.2:p.Phe3142Leu
ENST00000700202.1:c.1893C>G	ENSP00000514856.1:p.Phe631Leu
ENST00000700203.1:n.1604C>G
ENST00000380152.8:c.9477C>G MANE Select	ENSP00000369497.3:p.Phe3159Leu
ENST00000544455.6:c.9477C>G	ENSP00000439902.1:p.Phe3159Leu
ENST00000614259.2:c.9485C>G	ENSP00000506251.1:n.9485C>G
ENST00000665585.1:c.2355C>G
ENST00000666593.1:c.499C>G	ENSP00000499256.1:n.499C>G
ENST00000680887.1:c.9477C>G	ENSP00000505508.1:p.Phe3159Leu
ENST00000380152.7:c.9477C>G	ENSP00000369497.3:p.Phe3159Leu
ENST00000470094.1:c.434C>G
ENST00000544455.5:c.9477C>G	ENSP00000439902.1:p.Phe3159Leu
NM_000059.3:c.9477C>G , LRG_293t1:c.9477C>G	NP_000050.2:p.Phe3159Leu
XM_011535203.1:c.9477C>G	XP_011533505.1:p.Phe3159Leu
XM_011535204.1:c.9381C>G	XP_011533506.1:p.Phe3127Leu
NM_000059.4:c.9477C>G MANE Select	NP_000050.3:p.Phe3159Leu