Canonical Allele Identifier: CA401943919

Gene: AFG3L2 TUBB6

Linked Data

• MyVariant Identifiers: chr18:g.12337422T>G (hg19) ; chr18:g.12337423T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.12337423T>G , CM000680.2:g.12337423T>G	GRCh38
NC_000018.9:g.12337422T>G , CM000680.1:g.12337422T>G	GRCh37
NC_000018.8:g.12327422T>G	NCBI36
NG_023361.1:g.44854A>C , LRG_666:g.44854A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000687337.1:c.*1689A>C (AFG3L2)	ENSP00000508998.1:n.*1689A>C
ENST00000687477.1:n.629A>C (AFG3L2)
ENST00000688199.1:c.1955A>C (AFG3L2)	ENSP00000510237.1:p.Asp652Ala
ENST00000691179.1:c.2018A>C (AFG3L2)	ENSP00000509010.1:p.Asp673Ala
ENST00000691970.1:c.*1470A>C (AFG3L2)	ENSP00000508440.1:n.*1470A>C
ENST00000692497.1:c.*523A>C (AFG3L2)	ENSP00000509870.1:n.*523A>C
ENST00000692988.1:n.1911A>C (AFG3L2)
ENST00000269143.8:c.2093A>C (AFG3L2) MANE Select	ENSP00000269143.2:p.Asp698Ala
ENST00000269143.7:c.2093A>C (AFG3L2)	ENSP00000269143.2:p.Asp698Ala
ENST00000586691.1:c.88-6626T>G (TUBB6)
NM_006796.2:c.2093A>C , LRG_666t1:c.2093A>C (AFG3L2)	NP_006787.2:p.Asp698Ala
XM_011525601.1:c.1892A>C (AFG3L2)	XP_011523903.1:p.Asp631Ala
XM_011525601.3:c.1892A>C (AFG3L2)	XP_011523903.1:p.Asp631Ala
XR_002958227.1:n.451+521T>G
NM_006796.3:c.2093A>C (AFG3L2) MANE Select	NP_006787.2:p.Asp698Ala