Canonical Allele Identifier: CA387752383

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 657617
• ClinVar RCV Id: RCV000814257 ; RCV001776028 ; RCV002406846
• dbSNP Id: rs1555287610
• MyVariant Identifiers: chr13:g.32944555C>T (hg19) ; chr13:g.32370418C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32370418C>T , CM000675.2:g.32370418C>T	GRCh38
NC_000013.10:g.32944555C>T , CM000675.1:g.32944555C>T	GRCh37
NC_000013.9:g.31842555C>T	NCBI36
NG_012772.3:g.59939C>T , LRG_293:g.59939C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.8348C>T	ENSP00000434898.2:p.Thr2783Ile
ENST00000528762.2:c.8348C>T	ENSP00000433168.2:p.Thr2783Ile
ENST00000530893.7:c.7979C>T	ENSP00000499438.2:p.Thr2660Ile
ENST00000665585.2:c.8348C>T	ENSP00000499570.2:p.Thr2783Ile
ENST00000666593.2:c.8348C>T	ENSP00000499256.2:p.Thr2783Ile
ENST00000700202.2:c.8348C>T	ENSP00000514856.2:p.Thr2783Ile
ENST00000700202.1:c.815C>T	ENSP00000514856.1:p.Thr272Ile
ENST00000380152.8:c.8348C>T MANE Select	ENSP00000369497.3:p.Thr2783Ile
ENST00000544455.6:c.8348C>T	ENSP00000439902.1:p.Thr2783Ile
ENST00000614259.2:c.8356C>T	ENSP00000506251.1:n.8356C>T
ENST00000665585.1:c.913C>T
ENST00000680887.1:c.8348C>T	ENSP00000505508.1:p.Thr2783Ile
ENST00000380152.7:c.8348C>T	ENSP00000369497.3:p.Thr2783Ile
ENST00000544455.5:c.8348C>T	ENSP00000439902.1:p.Thr2783Ile
NM_000059.3:c.8348C>T , LRG_293t1:c.8348C>T	NP_000050.2:p.Thr2783Ile
XM_011535203.1:c.8348C>T	XP_011533505.1:p.Thr2783Ile
XM_011535204.1:c.8252C>T	XP_011533506.1:p.Thr2751Ile
XM_011535205.1:c.8348C>T	XP_011533507.1:p.Thr2783Ile
NM_000059.4:c.8348C>T MANE Select	NP_000050.3:p.Thr2783Ile