Canonical Allele Identifier: CA16614253

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 409469
• ClinVar RCV Id: RCV002429511 ; RCV002480411
• dbSNP Id: rs1060502414
• gnomAD v4: 13-32336945-C-T
• MyVariant Identifiers: chr13:g.32911082C>T (hg19) ; chr13:g.32336945C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32336945C>T , CM000675.2:g.32336945C>T	GRCh38
NC_000013.10:g.32911082C>T , CM000675.1:g.32911082C>T	GRCh37
NC_000013.9:g.31809082C>T	NCBI36
NG_012772.3:g.26466C>T , LRG_293:g.26466C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000470094.2:c.2590C>T	ENSP00000434898.2:p.Gln864Ter
ENST00000528762.2:c.2590C>T	ENSP00000433168.2:p.Gln864Ter
ENST00000530893.7:c.2221C>T	ENSP00000499438.2:p.Gln741Ter
ENST00000665585.2:c.2590C>T	ENSP00000499570.2:p.Gln864Ter
ENST00000666593.2:c.2590C>T	ENSP00000499256.2:p.Gln864Ter
ENST00000700202.2:c.2590C>T	ENSP00000514856.2:p.Gln864Ter
ENST00000380152.8:c.2590C>T MANE Select	ENSP00000369497.3:p.Gln864Ter
ENST00000544455.6:c.2590C>T	ENSP00000439902.1:p.Gln864Ter
ENST00000614259.2:c.2590C>T	ENSP00000506251.1:p.Gln864Ter
ENST00000680887.1:c.2590C>T	ENSP00000505508.1:p.Gln864Ter
ENST00000380152.7:c.2590C>T	ENSP00000369497.3:p.Gln864Ter
ENST00000544455.5:c.2590C>T	ENSP00000439902.1:p.Gln864Ter
ENST00000614259.1:n.2590C>T
NM_000059.3:c.2590C>T , LRG_293t1:c.2590C>T	NP_000050.2:p.Gln864Ter
XM_011535203.1:c.2590C>T	XP_011533505.1:p.Gln864Ter
XM_011535204.1:c.2590C>T	XP_011533506.1:p.Gln864Ter
XM_011535205.1:c.2590C>T	XP_011533507.1:p.Gln864Ter
NM_000059.4:c.2590C>T MANE Select	NP_000050.3:p.Gln864Ter