Canonical Allele Identifier: CA401947159

Gene: AFG3L2 TUBB6

Linked Data

• MyVariant Identifiers: chr18:g.12340305C>G (hg19) ; chr18:g.12340306C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.12340306C>G , CM000680.2:g.12340306C>G	GRCh38
NC_000018.9:g.12340305C>G , CM000680.1:g.12340305C>G	GRCh37
NC_000018.8:g.12330305C>G	NCBI36
NG_023361.1:g.41971G>C , LRG_666:g.41971G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000687337.1:c.*1471G>C (AFG3L2)	ENSP00000508998.1:n.*1471G>C
ENST00000687477.1:n.411G>C (AFG3L2)
ENST00000688199.1:c.1737G>C (AFG3L2)	ENSP00000510237.1:p.Met579Ile
ENST00000691179.1:c.1800G>C (AFG3L2)	ENSP00000509010.1:p.Met600Ile
ENST00000691970.1:c.*1252G>C (AFG3L2)	ENSP00000508440.1:n.*1252G>C
ENST00000692497.1:c.*305G>C (AFG3L2)	ENSP00000509870.1:n.*305G>C
ENST00000692988.1:n.1693G>C (AFG3L2)
ENST00000269143.8:c.1875G>C (AFG3L2) MANE Select	ENSP00000269143.2:p.Met625Ile
ENST00000269143.7:c.1875G>C (AFG3L2)	ENSP00000269143.2:p.Met625Ile
ENST00000586691.1:c.88-3743C>G (TUBB6)
NM_006796.2:c.1875G>C , LRG_666t1:c.1875G>C (AFG3L2)	NP_006787.2:p.Met625Ile
XM_011525601.1:c.1780-2771G>C (AFG3L2)	XP_011523903.1:n.1780-2771G>C
XM_011525601.3:c.1780-2771G>C (AFG3L2)	XP_011523903.1:n.1780-2771G>C
XR_001753363.1:n.415+1726C>G
XR_002958227.1:n.451+3404C>G
NM_006796.3:c.1875G>C (AFG3L2) MANE Select	NP_006787.2:p.Met625Ile