Canonical Allele Identifier: CA2499222007

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 1114959
• ClinVar RCV Id: RCV001442839
• dbSNP Id: rs2138697797
• gnomAD v4: 13-32316441-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32316441G>A , CM000675.2:g.32316441G>A	GRCh38
NC_000013.10:g.32890578G>A , CM000675.1:g.32890578G>A	GRCh37
NC_000013.9:g.31788578G>A	NCBI36
NG_012772.3:g.5962G>A , LRG_293:g.5962G>A
NG_017006.1:g.514C>T
NG_017006.2:g.3923C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.-20G>A	ENSP00000434898.2:n.-20G>A
ENST00000528762.2:c.-20G>A	ENSP00000433168.2:n.-20G>A
ENST00000530893.7:c.-385G>A	ENSP00000499438.2:n.-385G>A
ENST00000665585.2:c.-20G>A	ENSP00000499570.2:n.-20G>A
ENST00000666593.2:c.-20G>A	ENSP00000499256.2:n.-20G>A
ENST00000700202.2:c.-20G>A	ENSP00000514856.2:n.-20G>A
ENST00000700199.1:n.105G>A
ENST00000700200.1:n.105G>A
ENST00000700201.1:c.-20G>A	ENSP00000514855.1:n.-20G>A
ENST00000380152.8:c.-20G>A MANE Select	ENSP00000369497.3:n.-20G>A
ENST00000544455.6:c.-20G>A	ENSP00000439902.1:n.-20G>A
ENST00000680887.1:c.-20G>A	ENSP00000505508.1:n.-20G>A
ENST00000380152.7:c.-20G>A	ENSP00000369497.3:n.-20G>A
ENST00000530893.6:n.183G>A
ENST00000544455.5:c.-20G>A	ENSP00000439902.1:n.-20G>A
NM_000059.3:c.-20G>A , LRG_293t1:c.-20G>A	NP_000050.2:n.-20G>A
XM_011535203.1:c.-20G>A	XP_011533505.1:n.-20G>A
XM_011535204.1:c.-20G>A	XP_011533506.1:n.-20G>A
XM_011535205.1:c.-20G>A	XP_011533507.1:n.-20G>A
NM_000059.4:c.-20G>A MANE Select	NP_000050.3:n.-20G>A