Canonical Allele Identifier: CA276834
Gene: BRCA2 HGNC NCBI
IFIT1P1 HGNC NCBI

Linked Data

ClinVar Variation Id: 209866
ClinVar RCV Id: RCV000191814
dbSNP Id: rs10492396

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32384750G>A , CM000675.2:g.32384750G>A GRCh38
NC_000013.10:g.32958887G>A , CM000675.1:g.32958887G>A GRCh37
NC_000013.9:g.31856887G>A NCBI36
NG_012772.3:g.74271G>A , LRG_293:g.74271G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000470094.2:c.9256+4605G>A (BRCA2) ENSP00000434898.2:n.9256+4605G>A
ENST00000528762.2:c.*623+4605G>A (BRCA2) ENSP00000433168.2:n.*623+4605G>A
ENST00000530893.7:c.8887+4605G>A (BRCA2) ENSP00000499438.2:n.8887+4605G>A
ENST00000665585.2:c.*818+4605G>A (BRCA2) ENSP00000499570.2:n.*818+4605G>A
ENST00000666593.2:c.*101+719G>A (BRCA2) ENSP00000499256.2:n.*101+719G>A
ENST00000700202.2:c.9205+4605G>A (BRCA2) ENSP00000514856.2:n.9205+4605G>A
ENST00000700202.1:c.1672+4605G>A (BRCA2) ENSP00000514856.1:n.1672+4605G>A
ENST00000700203.1:n.1383+4605G>A (BRCA2)
ENST00000380152.8:c.9256+4605G>A (BRCA2) MANE Select ENSP00000369497.3:n.9256+4605G>A
ENST00000544455.6:c.9256+4605G>A (BRCA2) ENSP00000439902.1:n.9256+4605G>A
ENST00000614259.2:c.9264+4605G>A (BRCA2) ENSP00000506251.1:n.9264+4605G>A
ENST00000665585.1:c.2134+4605G>A (BRCA2)
ENST00000666593.1:c.278+719G>A (BRCA2) ENSP00000499256.1:n.278+719G>A
ENST00000680887.1:c.9256+4605G>A (BRCA2) ENSP00000505508.1:n.9256+4605G>A
ENST00000380152.7:c.9256+4605G>A (BRCA2) ENSP00000369497.3:n.9256+4605G>A
ENST00000400497.2:n.91G>A (IFIT1P1)
ENST00000470094.1:c.213+4605G>A (BRCA2)
ENST00000544455.5:c.9256+4605G>A (BRCA2) ENSP00000439902.1:n.9256+4605G>A
NM_000059.3:c.9256+4605G>A , LRG_293t1:c.9256+4605G>A (BRCA2) NP_000050.2:n.9256+4605G>A
XM_011535203.1:c.9256+4605G>A (BRCA2) XP_011533505.1:n.9256+4605G>A
XM_011535204.1:c.9160+4605G>A (BRCA2) XP_011533506.1:n.9160+4605G>A
NM_000059.4:c.9256+4605G>A (BRCA2) MANE Select NP_000050.3:n.9256+4605G>A