Canonical Allele Identifier: CA2082772958

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 1038113
• ClinVar RCV Id: RCV001341382
• dbSNP Id: rs2072248746
• gnomAD v4: 13-32315654-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32315654C>T , CM000675.2:g.32315654C>T	GRCh38
NC_000013.10:g.32889791C>T , CM000675.1:g.32889791C>T	GRCh37
NC_000013.9:g.31787791C>T	NCBI36
NG_012772.3:g.5175C>T , LRG_293:g.5175C>T
NG_017006.1:g.1301G>A
NG_017006.2:g.4710G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.-53C>T	ENSP00000434898.2:n.-53C>T
ENST00000528762.2:c.-53C>T	ENSP00000433168.2:n.-53C>T
ENST00000530893.7:c.-418C>T	ENSP00000499438.2:n.-418C>T
ENST00000665585.2:c.-53C>T	ENSP00000499570.2:n.-53C>T
ENST00000666593.2:c.-53C>T	ENSP00000499256.2:n.-53C>T
ENST00000700202.2:c.-53C>T	ENSP00000514856.2:n.-53C>T
ENST00000700199.1:n.72C>T
ENST00000700200.1:n.72C>T
ENST00000700201.1:c.-53C>T	ENSP00000514855.1:n.-53C>T
ENST00000380152.8:c.-53C>T MANE Select	ENSP00000369497.3:n.-53C>T
ENST00000544455.6:c.-40+509C>T	ENSP00000439902.1:n.-40+509C>T
ENST00000380152.7:c.-53C>T	ENSP00000369497.3:n.-53C>T
ENST00000530893.6:n.150C>T
ENST00000544455.5:c.-53C>T	ENSP00000439902.1:n.-53C>T
NM_000059.3:c.-53C>T , LRG_293t1:c.-53C>T	NP_000050.2:n.-53C>T
XM_011535203.1:c.-40+509C>T	XP_011533505.1:n.-40+509C>T
XM_011535204.1:c.-53C>T	XP_011533506.1:n.-53C>T
XM_011535205.1:c.-53C>T	XP_011533507.1:n.-53C>T
NM_000059.4:c.-53C>T MANE Select	NP_000050.3:n.-53C>T