Canonical Allele Identifier: CA340421
Gene: AFG3L2 HGNC NCBI
TUBB6 HGNC NCBI

Linked Data

ClinVar Variation Id: 5471
ClinVar RCV Id: RCV000005805
dbSNP Id: rs151344519

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.12337494_12337495delinsTA , CM000680.2:g.12337494_12337495delinsTA GRCh38
NC_000018.9:g.12337493_12337494delinsTA , CM000680.1:g.12337493_12337494delinsTA GRCh37
NC_000018.8:g.12327493_12327494delinsTA NCBI36
NG_023361.1:g.44782_44783delinsTA , LRG_666:g.44782_44783delinsTA

Transcript Alleles

HGVS Amino-acid change
ENST00000687337.1:c.*1617_*1618delinsTA (AFG3L2) ENSP00000508998.1:n.*1617_*1618delinsTA
ENST00000687477.1:n.557_558delinsTA (AFG3L2)
ENST00000688199.1:c.1883_1884delinsTA (AFG3L2) ENSP00000510237.1:p.Ser628Leu
ENST00000691179.1:c.1946_1947delinsTA (AFG3L2) ENSP00000509010.1:p.Ser649Leu
ENST00000691970.1:c.*1398_*1399delinsTA (AFG3L2) ENSP00000508440.1:n.*1398_*1399delinsTA
ENST00000692497.1:c.*451_*452delinsTA (AFG3L2) ENSP00000509870.1:n.*451_*452delinsTA
ENST00000692988.1:n.1839_1840delinsTA (AFG3L2)
ENST00000269143.8:c.2021_2022delinsTA (AFG3L2) MANE Select ENSP00000269143.2:p.Ser674Leu
ENST00000269143.7:c.2021_2022delinsTA (AFG3L2) ENSP00000269143.2:p.Ser674Leu
ENST00000586691.1:c.88-6555_88-6554delinsTA (TUBB6)
NM_006796.2:c.2021_2022delinsTA , LRG_666t1:c.2021_2022delinsTA (AFG3L2) NP_006787.2:p.Ser674Leu
XM_011525601.1:c.1820_1821delinsTA (AFG3L2) XP_011523903.1:p.Ser607Leu
XM_011525601.3:c.1820_1821delinsTA (AFG3L2) XP_011523903.1:p.Ser607Leu
XR_002958227.1:n.451+592_451+593delinsTA
NM_006796.3:c.2021_2022delinsTA (AFG3L2) MANE Select NP_006787.2:p.Ser674Leu