Canonical Allele Identifier: CA401943697

Gene: AFG3L2 TUBB6

Linked Data

• MyVariant Identifiers: chr18:g.12337374G>T (hg19) ; chr18:g.12337375G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.12337375G>T , CM000680.2:g.12337375G>T	GRCh38
NC_000018.9:g.12337374G>T , CM000680.1:g.12337374G>T	GRCh37
NC_000018.8:g.12327374G>T	NCBI36
NG_023361.1:g.44902C>A , LRG_666:g.44902C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000687337.1:c.*1737C>A (AFG3L2)	ENSP00000508998.1:n.*1737C>A
ENST00000687477.1:n.677C>A (AFG3L2)
ENST00000688199.1:c.2003C>A (AFG3L2)	ENSP00000510237.1:p.Ala668Asp
ENST00000691179.1:c.2066C>A (AFG3L2)	ENSP00000509010.1:p.Ala689Asp
ENST00000691970.1:c.*1518C>A (AFG3L2)	ENSP00000508440.1:n.*1518C>A
ENST00000692497.1:c.*571C>A (AFG3L2)	ENSP00000509870.1:n.*571C>A
ENST00000692988.1:n.1959C>A (AFG3L2)
ENST00000269143.8:c.2141C>A (AFG3L2) MANE Select	ENSP00000269143.2:p.Ala714Asp
ENST00000269143.7:c.2141C>A (AFG3L2)	ENSP00000269143.2:p.Ala714Asp
ENST00000586691.1:c.88-6674G>T (TUBB6)
NM_006796.2:c.2141C>A , LRG_666t1:c.2141C>A (AFG3L2)	NP_006787.2:p.Ala714Asp
XM_011525601.1:c.1940C>A (AFG3L2)	XP_011523903.1:p.Ala647Asp
XM_011525601.3:c.1940C>A (AFG3L2)	XP_011523903.1:p.Ala647Asp
XR_002958227.1:n.451+473G>T
NM_006796.3:c.2141C>A (AFG3L2) MANE Select	NP_006787.2:p.Ala714Asp