Canonical Allele Identifier: CA2285205574
Gene: AFG3L2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.12351037C= , CM000680.2:g.12351037C= GRCh38
NC_000018.9:g.12351036C= , CM000680.1:g.12351036C= GRCh37
NC_000018.8:g.12341036C= NCBI36
NG_023361.1:g.31240G= , LRG_666:g.31240G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000687337.1:c.*1148+48G= ENSP00000508998.1:n.*1148+48G=
ENST00000688199.1:c.1414+48G= ENSP00000510237.1:n.1414+48G=
ENST00000691179.1:c.1477+48G= ENSP00000509010.1:n.1477+48G=
ENST00000691970.1:c.*929+48G= ENSP00000508440.1:n.*929+48G=
ENST00000692497.1:c.1552+48G= ENSP00000509870.1:n.1552+48G=
ENST00000692988.1:n.1370+48G=
ENST00000269143.8:c.1552+48G= MANE Select ENSP00000269143.2:n.1552+48G=
ENST00000269143.7:c.1552+48G= ENSP00000269143.2:n.1552+48G=
NM_006796.2:c.1552+48G= , LRG_666t1:c.1552+48G= NP_006787.2:n.1552+48G=
XM_011525601.1:c.1552+48G= XP_011523903.1:n.1552+48G=
XM_011525601.3:c.1552+48G= XP_011523903.1:n.1552+48G=
NM_006796.3:c.1552+48G= MANE Select NP_006787.2:n.1552+48G=