Canonical Allele Identifier: CA10583121

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 236892
• ClinVar RCV Id: RCV000241501 ; RCV000230879 ; RCV000573709 ; RCV001528507
• dbSNP Id: rs149330893
• MyVariant Identifiers: chr13:g.32914920C>A (hg19) ; chr13:g.32340783C>A (hg38)
• PubMed: PMID:25320599 ; PMID:27383479

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32340783C>A , CM000675.2:g.32340783C>A	GRCh38
NC_000013.10:g.32914920C>A , CM000675.1:g.32914920C>A	GRCh37
NC_000013.9:g.31812920C>A	NCBI36
NG_012772.3:g.30304C>A , LRG_293:g.30304C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.6428C>A	ENSP00000434898.2:p.Ser2143Ter
ENST00000528762.2:c.6428C>A	ENSP00000433168.2:p.Ser2143Ter
ENST00000530893.7:c.6059C>A	ENSP00000499438.2:p.Ser2020Ter
ENST00000665585.2:c.6428C>A	ENSP00000499570.2:p.Ser2143Ter
ENST00000666593.2:c.6428C>A	ENSP00000499256.2:p.Ser2143Ter
ENST00000700202.2:c.6428C>A	ENSP00000514856.2:p.Ser2143Ter
ENST00000380152.8:c.6428C>A MANE Select	ENSP00000369497.3:p.Ser2143Ter
ENST00000544455.6:c.6428C>A	ENSP00000439902.1:p.Ser2143Ter
ENST00000614259.2:c.6428C>A	ENSP00000506251.1:p.Ser2143Ter
ENST00000680887.1:c.6428C>A	ENSP00000505508.1:p.Ser2143Ter
ENST00000380152.7:c.6428C>A	ENSP00000369497.3:p.Ser2143Ter
ENST00000544455.5:c.6428C>A	ENSP00000439902.1:p.Ser2143Ter
ENST00000614259.1:n.6428C>A
NM_000059.3:c.6428C>A , LRG_293t1:c.6428C>A	NP_000050.2:p.Ser2143Ter
XM_011535203.1:c.6428C>A	XP_011533505.1:p.Ser2143Ter
XM_011535204.1:c.6428C>A	XP_011533506.1:p.Ser2143Ter
XM_011535205.1:c.6428C>A	XP_011533507.1:p.Ser2143Ter
NM_000059.4:c.6428C>A MANE Select	NP_000050.3:p.Ser2143Ter