Canonical Allele Identifier: CA2285198786
Gene: AFG3L2 HGNC NCBI
TUBB6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.12337399T= , CM000680.2:g.12337399T= GRCh38
NC_000018.9:g.12337398T= , CM000680.1:g.12337398T= GRCh37
NC_000018.8:g.12327398T= NCBI36
NG_023361.1:g.44878A= , LRG_666:g.44878A=

Transcript Alleles

HGVS Amino-acid change
ENST00000687337.1:c.*1713A= (AFG3L2) ENSP00000508998.1:n.*1713A=
ENST00000687477.1:n.653A= (AFG3L2)
ENST00000688199.1:c.1979A= (AFG3L2) ENSP00000510237.1:p.Asn660=
ENST00000691179.1:c.2042A= (AFG3L2) ENSP00000509010.1:p.Asn681=
ENST00000691970.1:c.*1494A= (AFG3L2) ENSP00000508440.1:n.*1494A=
ENST00000692497.1:c.*547A= (AFG3L2) ENSP00000509870.1:n.*547A=
ENST00000692988.1:n.1935A= (AFG3L2)
ENST00000269143.8:c.2117A= (AFG3L2) MANE Select ENSP00000269143.2:p.Asn706=
ENST00000269143.7:c.2117A= (AFG3L2) ENSP00000269143.2:p.Asn706=
ENST00000586691.1:c.88-6650T= (TUBB6)
NM_006796.2:c.2117A= , LRG_666t1:c.2117A= (AFG3L2) NP_006787.2:p.Asn706=
XM_011525601.1:c.1916A= (AFG3L2) XP_011523903.1:p.Asn639=
XM_011525601.3:c.1916A= (AFG3L2) XP_011523903.1:p.Asn639=
XR_002958227.1:n.451+497T=
NM_006796.3:c.2117A= (AFG3L2) MANE Select NP_006787.2:p.Asn706=