Canonical Allele Identifier: CA2641067136

Gene: AFG3L2 TUBB6

Linked Data

• gnomAD v4: 18-12340123-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.12340123C>A , CM000680.2:g.12340123C>A	GRCh38
NC_000018.9:g.12340122C>A , CM000680.1:g.12340122C>A	GRCh37
NC_000018.8:g.12330122C>A	NCBI36
NG_023361.1:g.42154G>T , LRG_666:g.42154G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000687337.1:c.*1576+78G>T (AFG3L2)	ENSP00000508998.1:n.*1576+78G>T
ENST00000687477.1:n.516+78G>T (AFG3L2)
ENST00000688199.1:c.1842+78G>T (AFG3L2)	ENSP00000510237.1:n.1842+78G>T
ENST00000691179.1:c.1905+78G>T (AFG3L2)	ENSP00000509010.1:n.1905+78G>T
ENST00000691970.1:c.*1357+78G>T (AFG3L2)	ENSP00000508440.1:n.*1357+78G>T
ENST00000692497.1:c.*410+78G>T (AFG3L2)	ENSP00000509870.1:n.*410+78G>T
ENST00000692988.1:n.1798+78G>T (AFG3L2)
ENST00000269143.8:c.1980+78G>T (AFG3L2) MANE Select	ENSP00000269143.2:n.1980+78G>T
ENST00000269143.7:c.1980+78G>T (AFG3L2)	ENSP00000269143.2:n.1980+78G>T
ENST00000586691.1:c.88-3926C>A (TUBB6)
NM_006796.2:c.1980+78G>T , LRG_666t1:c.1980+78G>T (AFG3L2)	NP_006787.2:n.1980+78G>T
XM_011525601.1:c.1780-2588G>T (AFG3L2)	XP_011523903.1:n.1780-2588G>T
XM_011525601.3:c.1780-2588G>T (AFG3L2)	XP_011523903.1:n.1780-2588G>T
XR_001753363.1:n.415+1543C>A
XR_002958227.1:n.451+3221C>A
NM_006796.3:c.1980+78G>T (AFG3L2) MANE Select	NP_006787.2:n.1980+78G>T