Canonical Allele Identifier: CA401944119
Gene: AFG3L2 HGNC NCBI
TUBB6 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.12337465A>C , CM000680.2:g.12337465A>C GRCh38
NC_000018.9:g.12337464A>C , CM000680.1:g.12337464A>C GRCh37
NC_000018.8:g.12327464A>C NCBI36
NG_023361.1:g.44812T>G , LRG_666:g.44812T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000687337.1:c.*1647T>G (AFG3L2) ENSP00000508998.1:n.*1647T>G
ENST00000687477.1:n.587T>G (AFG3L2)
ENST00000688199.1:c.1913T>G (AFG3L2) ENSP00000510237.1:p.Val638Gly
ENST00000691179.1:c.1976T>G (AFG3L2) ENSP00000509010.1:p.Val659Gly
ENST00000691970.1:c.*1428T>G (AFG3L2) ENSP00000508440.1:n.*1428T>G
ENST00000692497.1:c.*481T>G (AFG3L2) ENSP00000509870.1:n.*481T>G
ENST00000692988.1:n.1869T>G (AFG3L2)
ENST00000269143.8:c.2051T>G (AFG3L2) MANE Select ENSP00000269143.2:p.Val684Gly
ENST00000269143.7:c.2051T>G (AFG3L2) ENSP00000269143.2:p.Val684Gly
ENST00000586691.1:c.88-6584A>C (TUBB6)
NM_006796.2:c.2051T>G , LRG_666t1:c.2051T>G (AFG3L2) NP_006787.2:p.Val684Gly
XM_011525601.1:c.1850T>G (AFG3L2) XP_011523903.1:p.Val617Gly
XM_011525601.3:c.1850T>G (AFG3L2) XP_011523903.1:p.Val617Gly
XR_002958227.1:n.451+563A>C
NM_006796.3:c.2051T>G (AFG3L2) MANE Select NP_006787.2:p.Val684Gly