Canonical Allele Identifier: CA16614392

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 409554
• ClinVar RCV Id: RCV000472575 ; RCV003477978
• dbSNP Id: rs80359191
• MyVariant Identifiers: chr13:g.32954275A>G (hg19) ; chr13:g.32380138A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32380138A>G , CM000675.2:g.32380138A>G	GRCh38
NC_000013.10:g.32954275A>G , CM000675.1:g.32954275A>G	GRCh37
NC_000013.9:g.31852275A>G	NCBI36
NG_012772.3:g.69659A>G , LRG_293:g.69659A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.9249A>G	ENSP00000434898.2:p.Lys3083=
ENST00000528762.2:c.*616A>G	ENSP00000433168.2:n.*616A>G
ENST00000530893.7:c.8880A>G	ENSP00000499438.2:p.Lys2960=
ENST00000665585.2:c.*811A>G	ENSP00000499570.2:n.*811A>G
ENST00000666593.2:c.9249A>G	ENSP00000499256.2:p.Lys3083=
ENST00000700202.2:c.9198A>G	ENSP00000514856.2:p.Lys3066=
ENST00000700202.1:c.1665A>G	ENSP00000514856.1:p.Lys555=
ENST00000700203.1:n.1376A>G
ENST00000380152.8:c.9249A>G MANE Select	ENSP00000369497.3:p.Lys3083=
ENST00000544455.6:c.9249A>G	ENSP00000439902.1:p.Lys3083=
ENST00000614259.2:c.9257A>G	ENSP00000506251.1:n.9257A>G
ENST00000665585.1:c.2127A>G
ENST00000666593.1:c.132A>G	ENSP00000499256.1:p.Lys44=
ENST00000680887.1:c.9249A>G	ENSP00000505508.1:p.Lys3083=
ENST00000380152.7:c.9249A>G	ENSP00000369497.3:p.Lys3083=
ENST00000470094.1:c.206A>G
ENST00000544455.5:c.9249A>G	ENSP00000439902.1:p.Lys3083=
NM_000059.3:c.9249A>G , LRG_293t1:c.9249A>G	NP_000050.2:p.Lys3083=
XM_011535203.1:c.9249A>G	XP_011533505.1:p.Lys3083=
XM_011535204.1:c.9153A>G	XP_011533506.1:p.Lys3051=
NM_000059.4:c.9249A>G MANE Select	NP_000050.3:p.Lys3083=