Canonical Allele Identifier: CA2622603338

Gene: BRCA2

Linked Data

• dbSNP Id: rs1026859271
• gnomAD v4: 13-32399168-T-A

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32399168T>A , CM000675.2:g.32399168T>A	GRCh38
NC_000013.10:g.32973305T>A , CM000675.1:g.32973305T>A	GRCh37
NC_000013.9:g.31871305T>A	NCBI36
NG_012772.3:g.88689T>A , LRG_293:g.88689T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000470094.2:c.*1178T>A	ENSP00000434898.2:n.*1178T>A
ENST00000530893.7:c.*398T>A	ENSP00000499438.2:n.*398T>A
ENST00000380152.8:c.*398T>A MANE Select	ENSP00000369497.3:n.*398T>A
ENST00000544455.6:c.*398T>A	ENSP00000439902.1:n.*398T>A
ENST00000614259.2:c.10663T>A	ENSP00000506251.1:n.10663T>A
ENST00000680887.1:c.*398T>A	ENSP00000505508.1:n.*398T>A
ENST00000380152.7:c.*398T>A	ENSP00000369497.3:n.*398T>A
ENST00000544455.5:c.*398T>A	ENSP00000439902.1:n.*398T>A
NM_000059.3:c.*398T>A , LRG_293t1:c.*398T>A	NP_000050.2:n.*398T>A
XM_011535203.1:c.*398T>A	XP_011533505.1:n.*398T>A
XM_011535204.1:c.*398T>A	XP_011533506.1:n.*398T>A
NM_000059.4:c.*398T>A MANE Select	NP_000050.3:n.*398T>A