Canonical Allele Identifier: CA10579803

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 231955
• ClinVar RCV Id: RCV000215392 ; RCV003530015
• dbSNP Id: rs876659461
• MyVariant Identifiers: chr13:g.32953649T>A (hg19) ; chr13:g.32379512T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32379512T>A , CM000675.2:g.32379512T>A	GRCh38
NC_000013.10:g.32953649T>A , CM000675.1:g.32953649T>A	GRCh37
NC_000013.9:g.31851649T>A	NCBI36
NG_012772.3:g.69033T>A , LRG_293:g.69033T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.8950T>A	ENSP00000434898.2:p.Ser2984Thr
ENST00000528762.2:c.*317T>A	ENSP00000433168.2:n.*317T>A
ENST00000530893.7:c.8581T>A	ENSP00000499438.2:p.Ser2861Thr
ENST00000665585.2:c.*512T>A	ENSP00000499570.2:n.*512T>A
ENST00000666593.2:c.8950T>A	ENSP00000499256.2:p.Ser2984Thr
ENST00000700202.2:c.8950T>A	ENSP00000514856.2:p.Ser2984Thr
ENST00000700202.1:c.1417T>A	ENSP00000514856.1:p.Ser473Thr
ENST00000700203.1:n.1077T>A
ENST00000380152.8:c.8950T>A MANE Select	ENSP00000369497.3:p.Ser2984Thr
ENST00000544455.6:c.8950T>A	ENSP00000439902.1:p.Ser2984Thr
ENST00000614259.2:c.8958T>A	ENSP00000506251.1:n.8958T>A
ENST00000665585.1:c.1828T>A
ENST00000680887.1:c.8950T>A	ENSP00000505508.1:p.Ser2984Thr
ENST00000380152.7:c.8950T>A	ENSP00000369497.3:p.Ser2984Thr
ENST00000544455.5:c.8950T>A	ENSP00000439902.1:p.Ser2984Thr
NM_000059.3:c.8950T>A , LRG_293t1:c.8950T>A	NP_000050.2:p.Ser2984Thr
XM_011535203.1:c.8950T>A	XP_011533505.1:p.Ser2984Thr
XM_011535204.1:c.8854T>A	XP_011533506.1:p.Ser2952Thr
XM_011535205.1:c.8755-238T>A	XP_011533507.1:n.8755-238T>A
NM_000059.4:c.8950T>A MANE Select	NP_000050.3:p.Ser2984Thr