Canonical Allele Identifier: CA023166

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 51930
• ClinVar RCV Id: RCV000074544 ; RCV000083120 ; RCV000219992 ; RCV000417374 ; RCV000985251 ; RCV003460595
• dbSNP Id: rs80358805
• gnomAD v4: 13-32326557-T-C
• COSMIC: COSM3793242 ; COSM3793243
• MyVariant Identifiers: chr13:g.32900694T>C (hg19) ; chr13:g.32326557T>C (hg38)
• PubMed: PMID:10923033 ; PMID:12097290 ; PMID:15806175 ; PMID:18657973 ; PMID:19064968 ; PMID:19491284 ; PMID:21702907 ; PMID:23983145

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32326557T>C , CM000675.2:g.32326557T>C	GRCh38
NC_000013.10:g.32900694T>C , CM000675.1:g.32900694T>C	GRCh37
NC_000013.9:g.31798694T>C	NCBI36
NG_012772.3:g.16078T>C , LRG_293:g.16078T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.575T>C	ENSP00000434898.2:p.Met192Thr
ENST00000528762.2:c.575T>C	ENSP00000433168.2:p.Met192Thr
ENST00000530893.7:c.206T>C	ENSP00000499438.2:p.Met69Thr
ENST00000665585.2:c.575T>C	ENSP00000499570.2:p.Met192Thr
ENST00000666593.2:c.575T>C	ENSP00000499256.2:p.Met192Thr
ENST00000700202.2:c.575T>C	ENSP00000514856.2:p.Met192Thr
ENST00000700200.1:n.446T>C
ENST00000700201.1:c.*354T>C	ENSP00000514855.1:n.*354T>C
ENST00000380152.8:c.575T>C MANE Select	ENSP00000369497.3:p.Met192Thr
ENST00000544455.6:c.575T>C	ENSP00000439902.1:p.Met192Thr
ENST00000614259.2:c.575T>C	ENSP00000506251.1:p.Met192Thr
ENST00000680887.1:c.575T>C	ENSP00000505508.1:p.Met192Thr
ENST00000380152.7:c.575T>C	ENSP00000369497.3:p.Met192Thr
ENST00000530893.6:n.773T>C
ENST00000544455.5:c.575T>C	ENSP00000439902.1:p.Met192Thr
ENST00000614259.1:n.575T>C
NM_000059.3:c.575T>C , LRG_293t1:c.575T>C	NP_000050.2:p.Met192Thr
XM_011535203.1:c.575T>C	XP_011533505.1:p.Met192Thr
XM_011535204.1:c.575T>C	XP_011533506.1:p.Met192Thr
XM_011535205.1:c.575T>C	XP_011533507.1:p.Met192Thr
NM_000059.4:c.575T>C MANE Select	NP_000050.3:p.Met192Thr