Canonical Allele Identifier: CA401944039

Gene: AFG3L2 TUBB6

Linked Data

• MyVariant Identifiers: chr18:g.12337448G>C (hg19) ; chr18:g.12337449G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.12337449G>C , CM000680.2:g.12337449G>C	GRCh38
NC_000018.9:g.12337448G>C , CM000680.1:g.12337448G>C	GRCh37
NC_000018.8:g.12327448G>C	NCBI36
NG_023361.1:g.44828C>G , LRG_666:g.44828C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000687337.1:c.*1663C>G (AFG3L2)	ENSP00000508998.1:n.*1663C>G
ENST00000687477.1:n.603C>G (AFG3L2)
ENST00000688199.1:c.1929C>G (AFG3L2)	ENSP00000510237.1:p.Tyr643Ter
ENST00000691179.1:c.1992C>G (AFG3L2)	ENSP00000509010.1:p.Tyr664Ter
ENST00000691970.1:c.*1444C>G (AFG3L2)	ENSP00000508440.1:n.*1444C>G
ENST00000692497.1:c.*497C>G (AFG3L2)	ENSP00000509870.1:n.*497C>G
ENST00000692988.1:n.1885C>G (AFG3L2)
ENST00000269143.8:c.2067C>G (AFG3L2) MANE Select	ENSP00000269143.2:p.Tyr689Ter
ENST00000269143.7:c.2067C>G (AFG3L2)	ENSP00000269143.2:p.Tyr689Ter
ENST00000586691.1:c.88-6600G>C (TUBB6)
NM_006796.2:c.2067C>G , LRG_666t1:c.2067C>G (AFG3L2)	NP_006787.2:p.Tyr689Ter
XM_011525601.1:c.1866C>G (AFG3L2)	XP_011523903.1:p.Tyr622Ter
XM_011525601.3:c.1866C>G (AFG3L2)	XP_011523903.1:p.Tyr622Ter
XR_002958227.1:n.451+547G>C
NM_006796.3:c.2067C>G (AFG3L2) MANE Select	NP_006787.2:p.Tyr689Ter