Canonical Allele Identifier: CA025940

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 141162
• ClinVar RCV Id: RCV000129551 ; RCV000240993 ; RCV000413054 ; RCV000559907 ; RCV004528851
• dbSNP Id: rs80359156
• MyVariant Identifiers: chr13:g.32953974C>G (hg19) ; chr13:g.32379837C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32379837C>G , CM000675.2:g.32379837C>G	GRCh38
NC_000013.10:g.32953974C>G , CM000675.1:g.32953974C>G	GRCh37
NC_000013.9:g.31851974C>G	NCBI36
NG_012772.3:g.69358C>G , LRG_293:g.69358C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.9041C>G	ENSP00000434898.2:p.Ser3014Ter
ENST00000528762.2:c.*408C>G	ENSP00000433168.2:n.*408C>G
ENST00000530893.7:c.8672C>G	ENSP00000499438.2:p.Ser2891Ter
ENST00000665585.2:c.*603C>G	ENSP00000499570.2:n.*603C>G
ENST00000666593.2:c.9041C>G	ENSP00000499256.2:p.Ser3014Ter
ENST00000700202.2:c.8990C>G	ENSP00000514856.2:p.Ser2997Ter
ENST00000700202.1:c.1457C>G	ENSP00000514856.1:p.Ser486Ter
ENST00000700203.1:n.1168C>G
ENST00000380152.8:c.9041C>G MANE Select	ENSP00000369497.3:p.Ser3014Ter
ENST00000544455.6:c.9041C>G	ENSP00000439902.1:p.Ser3014Ter
ENST00000614259.2:c.9049C>G	ENSP00000506251.1:n.9049C>G
ENST00000665585.1:c.1919C>G
ENST00000680887.1:c.9041C>G	ENSP00000505508.1:p.Ser3014Ter
ENST00000380152.7:c.9041C>G	ENSP00000369497.3:p.Ser3014Ter
ENST00000544455.5:c.9041C>G	ENSP00000439902.1:p.Ser3014Ter
NM_000059.3:c.9041C>G , LRG_293t1:c.9041C>G	NP_000050.2:p.Ser3014Ter
XM_011535203.1:c.9041C>G	XP_011533505.1:p.Ser3014Ter
XM_011535204.1:c.8945C>G	XP_011533506.1:p.Ser2982Ter
XM_011535205.1:c.*79C>G	XP_011533507.1:n.*79C>G
NM_000059.4:c.9041C>G MANE Select	NP_000050.3:p.Ser3014Ter