Canonical Allele Identifier: CA16606763

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 384062
• ClinVar RCV Id: RCV000417554 ; RCV001350222
• dbSNP Id: rs1057521841
• gnomAD v4: 13-32315656-C-T
• MyVariant Identifiers: chr13:g.32889793C>T (hg19) ; chr13:g.32315656C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32315656C>T , CM000675.2:g.32315656C>T	GRCh38
NC_000013.10:g.32889793C>T , CM000675.1:g.32889793C>T	GRCh37
NC_000013.9:g.31787793C>T	NCBI36
NG_012772.3:g.5177C>T , LRG_293:g.5177C>T
NG_017006.1:g.1299G>A
NG_017006.2:g.4708G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.-51C>T	ENSP00000434898.2:n.-51C>T
ENST00000528762.2:c.-51C>T	ENSP00000433168.2:n.-51C>T
ENST00000530893.7:c.-416C>T	ENSP00000499438.2:n.-416C>T
ENST00000665585.2:c.-51C>T	ENSP00000499570.2:n.-51C>T
ENST00000666593.2:c.-51C>T	ENSP00000499256.2:n.-51C>T
ENST00000700202.2:c.-51C>T	ENSP00000514856.2:n.-51C>T
ENST00000700199.1:n.74C>T
ENST00000700200.1:n.74C>T
ENST00000700201.1:c.-51C>T	ENSP00000514855.1:n.-51C>T
ENST00000380152.8:c.-51C>T MANE Select	ENSP00000369497.3:n.-51C>T
ENST00000544455.6:c.-40+511C>T	ENSP00000439902.1:n.-40+511C>T
ENST00000380152.7:c.-51C>T	ENSP00000369497.3:n.-51C>T
ENST00000530893.6:n.152C>T
ENST00000544455.5:c.-51C>T	ENSP00000439902.1:n.-51C>T
NM_000059.3:c.-51C>T , LRG_293t1:c.-51C>T	NP_000050.2:n.-51C>T
XM_011535203.1:c.-40+511C>T	XP_011533505.1:n.-40+511C>T
XM_011535204.1:c.-51C>T	XP_011533506.1:n.-51C>T
XM_011535205.1:c.-51C>T	XP_011533507.1:n.-51C>T
NM_000059.4:c.-51C>T MANE Select	NP_000050.3:n.-51C>T