Canonical Allele Identifier: CA2082750372
Gene: BRCA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32336579_32336580delinsCA , CM000675.2:g.32336579_32336580delinsCA GRCh38
NC_000013.10:g.32910716_32910717delinsCA , CM000675.1:g.32910716_32910717delinsCA GRCh37
NC_000013.9:g.31808716_31808717delinsCA NCBI36
NG_012772.3:g.26100_26101delinsCA , LRG_293:g.26100_26101delinsCA

Transcript Alleles

HGVS Amino-acid Change
ENST00000470094.2:c.2224_2225delinsCA ENSP00000434898.2:p.Gln742=
ENST00000528762.2:c.2224_2225delinsCA ENSP00000433168.2:p.Gln742=
ENST00000530893.7:c.1855_1856delinsCA ENSP00000499438.2:p.Gln619=
ENST00000665585.2:c.2224_2225delinsCA ENSP00000499570.2:p.Gln742=
ENST00000666593.2:c.2224_2225delinsCA ENSP00000499256.2:p.Gln742=
ENST00000700202.2:c.2224_2225delinsCA ENSP00000514856.2:p.Gln742=
ENST00000380152.8:c.2224_2225delinsCA MANE Select ENSP00000369497.3:p.Gln742=
ENST00000544455.6:c.2224_2225delinsCA ENSP00000439902.1:p.Gln742=
ENST00000614259.2:c.2224_2225delinsCA ENSP00000506251.1:p.Gln742=
ENST00000680887.1:c.2224_2225delinsCA ENSP00000505508.1:p.Gln742=
ENST00000380152.7:c.2224_2225delinsCA ENSP00000369497.3:p.Gln742=
ENST00000544455.5:c.2224_2225delinsCA ENSP00000439902.1:p.Gln742=
ENST00000614259.1:n.2224_2225delinsCA
NM_000059.3:c.2224_2225delinsCA , LRG_293t1:c.2224_2225delinsCA NP_000050.2:p.Gln742=
XM_011535203.1:c.2224_2225delinsCA XP_011533505.1:p.Gln742=
XM_011535204.1:c.2224_2225delinsCA XP_011533506.1:p.Gln742=
XM_011535205.1:c.2224_2225delinsCA XP_011533507.1:p.Gln742=
NM_000059.4:c.2224_2225delinsCA MANE Select NP_000050.3:p.Gln742=