Canonical Allele Identifier: CA503244908

Gene: AFG3L2 TUBB6

Linked Data

• MyVariant Identifiers: chr18:g.12337490A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.12337491A>G , CM000680.2:g.12337491A>G	GRCh38
NC_000018.9:g.12337490A>G , CM000680.1:g.12337490A>G	GRCh37
NC_000018.8:g.12327490A>G	NCBI36
NG_023361.1:g.44786T>C , LRG_666:g.44786T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000687337.1:c.*1621T>C (AFG3L2)	ENSP00000508998.1:n.*1621T>C
ENST00000687477.1:n.561T>C (AFG3L2)
ENST00000688199.1:c.1887T>C (AFG3L2)	ENSP00000510237.1:p.Phe629=
ENST00000691179.1:c.1950T>C (AFG3L2)	ENSP00000509010.1:p.Phe650=
ENST00000691970.1:c.*1402T>C (AFG3L2)	ENSP00000508440.1:n.*1402T>C
ENST00000692497.1:c.*455T>C (AFG3L2)	ENSP00000509870.1:n.*455T>C
ENST00000692988.1:n.1843T>C (AFG3L2)
ENST00000269143.8:c.2025T>C (AFG3L2) MANE Select	ENSP00000269143.2:p.Phe675=
ENST00000269143.7:c.2025T>C (AFG3L2)	ENSP00000269143.2:p.Phe675=
ENST00000586691.1:c.88-6558A>G (TUBB6)
NM_006796.2:c.2025T>C , LRG_666t1:c.2025T>C (AFG3L2)	NP_006787.2:p.Phe675=
XM_011525601.1:c.1824T>C (AFG3L2)	XP_011523903.1:p.Phe608=
XM_011525601.3:c.1824T>C (AFG3L2)	XP_011523903.1:p.Phe608=
XR_002958227.1:n.451+589A>G
NM_006796.3:c.2025T>C (AFG3L2) MANE Select	NP_006787.2:p.Phe675=