Canonical Allele Identifier: CA401944293

Gene: AFG3L2 TUBB6

Linked Data

• MyVariant Identifiers: chr18:g.12337501G>C (hg19) ; chr18:g.12337502G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.12337502G>C , CM000680.2:g.12337502G>C	GRCh38
NC_000018.9:g.12337501G>C , CM000680.1:g.12337501G>C	GRCh37
NC_000018.8:g.12327501G>C	NCBI36
NG_023361.1:g.44775C>G , LRG_666:g.44775C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000687337.1:c.*1610C>G (AFG3L2)	ENSP00000508998.1:n.*1610C>G
ENST00000687477.1:n.550C>G (AFG3L2)
ENST00000688199.1:c.1876C>G (AFG3L2)	ENSP00000510237.1:p.Gln626Glu
ENST00000691179.1:c.1939C>G (AFG3L2)	ENSP00000509010.1:p.Gln647Glu
ENST00000691970.1:c.*1391C>G (AFG3L2)	ENSP00000508440.1:n.*1391C>G
ENST00000692497.1:c.*444C>G (AFG3L2)	ENSP00000509870.1:n.*444C>G
ENST00000692988.1:n.1832C>G (AFG3L2)
ENST00000269143.8:c.2014C>G (AFG3L2) MANE Select	ENSP00000269143.2:p.Gln672Glu
ENST00000269143.7:c.2014C>G (AFG3L2)	ENSP00000269143.2:p.Gln672Glu
ENST00000586691.1:c.88-6547G>C (TUBB6)
NM_006796.2:c.2014C>G , LRG_666t1:c.2014C>G (AFG3L2)	NP_006787.2:p.Gln672Glu
XM_011525601.1:c.1813C>G (AFG3L2)	XP_011523903.1:p.Gln605Glu
XM_011525601.3:c.1813C>G (AFG3L2)	XP_011523903.1:p.Gln605Glu
XR_002958227.1:n.451+600G>C
NM_006796.3:c.2014C>G (AFG3L2) MANE Select	NP_006787.2:p.Gln672Glu