Canonical Allele Identifier: CA387756484

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 2826962
• ClinVar RCV Id: RCV003645716
• dbSNP Id: rs886040798
• gnomAD v2: 13-32953587-C-T
• gnomAD v4: 13-32379450-C-T
• MyVariant Identifiers: chr13:g.32953587C>T (hg19) ; chr13:g.32379450C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32379450C>T , CM000675.2:g.32379450C>T	GRCh38
NC_000013.10:g.32953587C>T , CM000675.1:g.32953587C>T	GRCh37
NC_000013.9:g.31851587C>T	NCBI36
NG_012772.3:g.68971C>T , LRG_293:g.68971C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.8888C>T	ENSP00000434898.2:p.Ser2963Leu
ENST00000528762.2:c.*255C>T	ENSP00000433168.2:n.*255C>T
ENST00000530893.7:c.8519C>T	ENSP00000499438.2:p.Ser2840Leu
ENST00000665585.2:c.*450C>T	ENSP00000499570.2:n.*450C>T
ENST00000666593.2:c.8888C>T	ENSP00000499256.2:p.Ser2963Leu
ENST00000700202.2:c.8888C>T	ENSP00000514856.2:p.Ser2963Leu
ENST00000700202.1:c.1355C>T	ENSP00000514856.1:p.Ser452Leu
ENST00000700203.1:n.1015C>T
ENST00000380152.8:c.8888C>T MANE Select	ENSP00000369497.3:p.Ser2963Leu
ENST00000544455.6:c.8888C>T	ENSP00000439902.1:p.Ser2963Leu
ENST00000614259.2:c.8896C>T	ENSP00000506251.1:n.8896C>T
ENST00000665585.1:c.1766C>T
ENST00000680887.1:c.8888C>T	ENSP00000505508.1:p.Ser2963Leu
ENST00000380152.7:c.8888C>T	ENSP00000369497.3:p.Ser2963Leu
ENST00000528762.1:c.450C>T	ENSP00000433168.1:n.450C>T
ENST00000544455.5:c.8888C>T	ENSP00000439902.1:p.Ser2963Leu
NM_000059.3:c.8888C>T , LRG_293t1:c.8888C>T	NP_000050.2:p.Ser2963Leu
XM_011535203.1:c.8888C>T	XP_011533505.1:p.Ser2963Leu
XM_011535204.1:c.8792C>T	XP_011533506.1:p.Ser2931Leu
XM_011535205.1:c.8755-300C>T	XP_011533507.1:n.8755-300C>T
NM_000059.4:c.8888C>T MANE Select	NP_000050.3:p.Ser2963Leu