Canonical Allele Identifier: CA387763138

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 1498182
• ClinVar RCV Id: RCV001996455
• dbSNP Id: rs80359225
• MyVariant Identifiers: chr13:g.32971075T>C (hg19) ; chr13:g.32396938T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32396938T>C , CM000675.2:g.32396938T>C	GRCh38
NC_000013.10:g.32971075T>C , CM000675.1:g.32971075T>C	GRCh37
NC_000013.9:g.31869075T>C	NCBI36
NG_012772.3:g.86459T>C , LRG_293:g.86459T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000470094.2:c.*65T>C	ENSP00000434898.2:n.*65T>C
ENST00000528762.2:c.*909T>C	ENSP00000433168.2:n.*909T>C
ENST00000530893.7:c.9173T>C	ENSP00000499438.2:p.Met3058Thr
ENST00000665585.2:c.*1104T>C	ENSP00000499570.2:n.*1104T>C
ENST00000700202.2:c.9491T>C	ENSP00000514856.2:p.Met3164Thr
ENST00000700202.1:c.1958T>C	ENSP00000514856.1:p.Met653Thr
ENST00000700203.1:n.1669T>C
ENST00000380152.8:c.9542T>C MANE Select	ENSP00000369497.3:p.Met3181Thr
ENST00000544455.6:c.9542T>C	ENSP00000439902.1:p.Met3181Thr
ENST00000614259.2:c.9550T>C	ENSP00000506251.1:n.9550T>C
ENST00000665585.1:c.2420T>C
ENST00000680887.1:c.9542T>C	ENSP00000505508.1:p.Met3181Thr
ENST00000380152.7:c.9542T>C	ENSP00000369497.3:p.Met3181Thr
ENST00000470094.1:c.625T>C
ENST00000533776.1:n.130T>C
ENST00000544455.5:c.9542T>C	ENSP00000439902.1:p.Met3181Thr
NM_000059.3:c.9542T>C , LRG_293t1:c.9542T>C	NP_000050.2:p.Met3181Thr
XM_011535203.1:c.9542T>C	XP_011533505.1:p.Met3181Thr
XM_011535204.1:c.9446T>C	XP_011533506.1:p.Met3149Thr
NM_000059.4:c.9542T>C MANE Select	NP_000050.3:p.Met3181Thr