Canonical Allele Identifier: CA401943914

Gene: AFG3L2 TUBB6

Linked Data

• MyVariant Identifiers: chr18:g.12337421A>T (hg19) ; chr18:g.12337422A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.12337422A>T , CM000680.2:g.12337422A>T	GRCh38
NC_000018.9:g.12337421A>T , CM000680.1:g.12337421A>T	GRCh37
NC_000018.8:g.12327421A>T	NCBI36
NG_023361.1:g.44855T>A , LRG_666:g.44855T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000687337.1:c.*1690T>A (AFG3L2)	ENSP00000508998.1:n.*1690T>A
ENST00000687477.1:n.630T>A (AFG3L2)
ENST00000688199.1:c.1956T>A (AFG3L2)	ENSP00000510237.1:p.Asp652Glu
ENST00000691179.1:c.2019T>A (AFG3L2)	ENSP00000509010.1:p.Asp673Glu
ENST00000691970.1:c.*1471T>A (AFG3L2)	ENSP00000508440.1:n.*1471T>A
ENST00000692497.1:c.*524T>A (AFG3L2)	ENSP00000509870.1:n.*524T>A
ENST00000692988.1:n.1912T>A (AFG3L2)
ENST00000269143.8:c.2094T>A (AFG3L2) MANE Select	ENSP00000269143.2:p.Asp698Glu
ENST00000269143.7:c.2094T>A (AFG3L2)	ENSP00000269143.2:p.Asp698Glu
ENST00000586691.1:c.88-6627A>T (TUBB6)
NM_006796.2:c.2094T>A , LRG_666t1:c.2094T>A (AFG3L2)	NP_006787.2:p.Asp698Glu
XM_011525601.1:c.1893T>A (AFG3L2)	XP_011523903.1:p.Asp631Glu
XM_011525601.3:c.1893T>A (AFG3L2)	XP_011523903.1:p.Asp631Glu
XR_002958227.1:n.451+520A>T
NM_006796.3:c.2094T>A (AFG3L2) MANE Select	NP_006787.2:p.Asp698Glu