Canonical Allele Identifier: CA296683802

Gene: AFG3L2 TUBB6

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.12329647G>A , CM000680.2:g.12329647G>A	GRCh38
NC_000018.9:g.12329646G>A , CM000680.1:g.12329646G>A	GRCh37
NC_000018.8:g.12319646G>A	NCBI36
NG_023361.1:g.52630C>T , LRG_666:g.52630C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_006796.3:c.2312C>T (AFG3L2) MANE Select	NP_006787.2:p.Ser771Leu
ENST00000269143.8:c.2312C>T (AFG3L2) MANE Select	ENSP00000269143.2:p.Ser771Leu
NM_001303525.1:c.*464G>A (TUBB6)	NP_001290454.1:n.*464G>A
NM_001303525.2:c.*464G>A (TUBB6)	NP_001290454.1:n.*464G>A
NM_006796.2:c.2312C>T , LRG_666t1:c.2312C>T (AFG3L2)	NP_006787.2:p.Ser771Leu
ENST00000269143.7:c.2312C>T (AFG3L2)	ENSP00000269143.2:p.Ser771Leu
ENST00000586691.1:c.88-14402G>A (TUBB6)
ENST00000590967.5:c.278-7466G>A (TUBB6)	ENSP00000465386.1:n.278-7466G>A
ENST00000591909.5:c.*464G>A (TUBB6)	ENSP00000465040.1:n.*464G>A
ENST00000687337.1:c.*1908C>T (AFG3L2)	ENSP00000508998.1:n.*1908C>T
ENST00000687477.1:n.848C>T (AFG3L2)
ENST00000688199.1:c.2174C>T (AFG3L2)	ENSP00000510237.1:p.Ser725Leu
ENST00000691179.1:c.2237C>T (AFG3L2)	ENSP00000509010.1:p.Ser746Leu
ENST00000691970.1:c.*1689C>T (AFG3L2)	ENSP00000508440.1:n.*1689C>T
ENST00000692497.1:c.*742C>T (AFG3L2)	ENSP00000509870.1:n.*742C>T
ENST00000692988.1:n.2130C>T (AFG3L2)
XM_011525601.1:c.2111C>T (AFG3L2)	XP_011523903.1:p.Ser704Leu
XM_011525601.3:c.2111C>T (AFG3L2)	XP_011523903.1:p.Ser704Leu