Canonical Allele Identifier: CA2727933492

Gene: BRCA2

Linked Data

• dbSNP Id: rs2137626291

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32380215G>T , CM000675.2:g.32380215G>T	GRCh38
NC_000013.10:g.32954352G>T , CM000675.1:g.32954352G>T	GRCh37
NC_000013.9:g.31852352G>T	NCBI36
NG_012772.3:g.69736G>T , LRG_293:g.69736G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.9256+70G>T	ENSP00000434898.2:n.9256+70G>T
ENST00000528762.2:c.*623+70G>T	ENSP00000433168.2:n.*623+70G>T
ENST00000530893.7:c.8887+70G>T	ENSP00000499438.2:n.8887+70G>T
ENST00000665585.2:c.*818+70G>T	ENSP00000499570.2:n.*818+70G>T
ENST00000666593.2:c.9256+70G>T	ENSP00000499256.2:n.9256+70G>T
ENST00000700202.2:c.9205+70G>T	ENSP00000514856.2:n.9205+70G>T
ENST00000700202.1:c.1672+70G>T	ENSP00000514856.1:n.1672+70G>T
ENST00000700203.1:n.1383+70G>T
ENST00000380152.8:c.9256+70G>T MANE Select	ENSP00000369497.3:n.9256+70G>T
ENST00000544455.6:c.9256+70G>T	ENSP00000439902.1:n.9256+70G>T
ENST00000614259.2:c.9264+70G>T	ENSP00000506251.1:n.9264+70G>T
ENST00000665585.1:c.2134+70G>T
ENST00000666593.1:c.139+70G>T	ENSP00000499256.1:n.139+70G>T
ENST00000680887.1:c.9256+70G>T	ENSP00000505508.1:n.9256+70G>T
ENST00000380152.7:c.9256+70G>T	ENSP00000369497.3:n.9256+70G>T
ENST00000470094.1:c.213+70G>T
ENST00000544455.5:c.9256+70G>T	ENSP00000439902.1:n.9256+70G>T
NM_000059.3:c.9256+70G>T , LRG_293t1:c.9256+70G>T	NP_000050.2:n.9256+70G>T
XM_011535203.1:c.9256+70G>T	XP_011533505.1:n.9256+70G>T
XM_011535204.1:c.9160+70G>T	XP_011533506.1:n.9160+70G>T
NM_000059.4:c.9256+70G>T MANE Select	NP_000050.3:n.9256+70G>T