Canonical Allele Identifier: CA296690566

Gene: AFG3L2 TUBB6

Linked Data

• dbSNP Id: rs567838269
• gnomAD v3: 18-12337723-A-G
• gnomAD v4: 18-12337723-A-G
• MyVariant Identifiers: chr18:g.12337722A>G (hg19) ; chr18:g.12337723A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.12337723A>G , CM000680.2:g.12337723A>G	GRCh38
NC_000018.9:g.12337722A>G , CM000680.1:g.12337722A>G	GRCh37
NC_000018.8:g.12327722A>G	NCBI36
NG_023361.1:g.44554T>C , LRG_666:g.44554T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000687337.1:c.*1577-188T>C (AFG3L2)	ENSP00000508998.1:n.*1577-188T>C
ENST00000687477.1:n.517-188T>C (AFG3L2)
ENST00000688199.1:c.1843-188T>C (AFG3L2)	ENSP00000510237.1:n.1843-188T>C
ENST00000691179.1:c.1906-188T>C (AFG3L2)	ENSP00000509010.1:n.1906-188T>C
ENST00000691970.1:c.*1358-188T>C (AFG3L2)	ENSP00000508440.1:n.*1358-188T>C
ENST00000692497.1:c.*411-188T>C (AFG3L2)	ENSP00000509870.1:n.*411-188T>C
ENST00000692988.1:n.1799-188T>C (AFG3L2)
ENST00000269143.8:c.1981-188T>C (AFG3L2) MANE Select	ENSP00000269143.2:n.1981-188T>C
ENST00000269143.7:c.1981-188T>C (AFG3L2)	ENSP00000269143.2:n.1981-188T>C
ENST00000586691.1:c.88-6326A>G (TUBB6)
NM_006796.2:c.1981-188T>C , LRG_666t1:c.1981-188T>C (AFG3L2)	NP_006787.2:n.1981-188T>C
XM_011525601.1:c.1780-188T>C (AFG3L2)	XP_011523903.1:n.1780-188T>C
XM_011525601.3:c.1780-188T>C (AFG3L2)	XP_011523903.1:n.1780-188T>C
XR_002958227.1:n.451+821A>G
NM_006796.3:c.1981-188T>C (AFG3L2) MANE Select	NP_006787.2:n.1981-188T>C