Canonical Allele Identifier: CA025716

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 52624
• ClinVar RCV Id: RCV000113962 ; RCV000496700 ; RCV001018029 ; RCV001353467
• dbSNP Id: rs80359112
• gnomAD v2: 13-32945177-C-T
• gnomAD v3: 13-32371040-C-T
• gnomAD v4: 13-32371040-C-T
• MyVariant Identifiers: chr13:g.32945177C>T (hg19) ; chr13:g.32371040C>T (hg38)
• PubMed: PMID:10449599

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32371040C>T , CM000675.2:g.32371040C>T	GRCh38
NC_000013.10:g.32945177C>T , CM000675.1:g.32945177C>T	GRCh37
NC_000013.9:g.31843177C>T	NCBI36
NG_012772.3:g.60561C>T , LRG_293:g.60561C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.8572C>T	ENSP00000434898.2:p.Gln2858Ter
ENST00000528762.2:c.8572C>T	ENSP00000433168.2:p.Gln2858Ter
ENST00000530893.7:c.8203C>T	ENSP00000499438.2:p.Gln2735Ter
ENST00000665585.2:c.8572C>T	ENSP00000499570.2:p.Gln2858Ter
ENST00000666593.2:c.8572C>T	ENSP00000499256.2:p.Gln2858Ter
ENST00000700202.2:c.8572C>T	ENSP00000514856.2:p.Gln2858Ter
ENST00000700202.1:c.1039C>T	ENSP00000514856.1:p.Gln347Ter
ENST00000380152.8:c.8572C>T MANE Select	ENSP00000369497.3:p.Gln2858Ter
ENST00000544455.6:c.8572C>T	ENSP00000439902.1:p.Gln2858Ter
ENST00000614259.2:c.8580C>T	ENSP00000506251.1:n.8580C>T
ENST00000665585.1:c.1137C>T
ENST00000680887.1:c.8572C>T	ENSP00000505508.1:p.Gln2858Ter
ENST00000380152.7:c.8572C>T	ENSP00000369497.3:p.Gln2858Ter
ENST00000528762.1:c.70C>T	ENSP00000433168.1:p.Gln24Ter
ENST00000544455.5:c.8572C>T	ENSP00000439902.1:p.Gln2858Ter
NM_000059.3:c.8572C>T , LRG_293t1:c.8572C>T	NP_000050.2:p.Gln2858Ter
XM_011535203.1:c.8572C>T	XP_011533505.1:p.Gln2858Ter
XM_011535204.1:c.8476C>T	XP_011533506.1:p.Gln2826Ter
XM_011535205.1:c.8572C>T	XP_011533507.1:p.Gln2858Ter
NM_000059.4:c.8572C>T MANE Select	NP_000050.3:p.Gln2858Ter