Canonical Allele Identifier: CA401943687

Gene: AFG3L2 TUBB6

Linked Data

• gnomAD v4: 18-12337372-A-C
• MyVariant Identifiers: chr18:g.12337371A>C (hg19) ; chr18:g.12337372A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.12337372A>C , CM000680.2:g.12337372A>C	GRCh38
NC_000018.9:g.12337371A>C , CM000680.1:g.12337371A>C	GRCh37
NC_000018.8:g.12327371A>C	NCBI36
NG_023361.1:g.44905T>G , LRG_666:g.44905T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000687337.1:c.*1740T>G (AFG3L2)	ENSP00000508998.1:n.*1740T>G
ENST00000687477.1:n.680T>G (AFG3L2)
ENST00000688199.1:c.2006T>G (AFG3L2)	ENSP00000510237.1:p.Leu669Arg
ENST00000691179.1:c.2069T>G (AFG3L2)	ENSP00000509010.1:p.Leu690Arg
ENST00000691970.1:c.*1521T>G (AFG3L2)	ENSP00000508440.1:n.*1521T>G
ENST00000692497.1:c.*574T>G (AFG3L2)	ENSP00000509870.1:n.*574T>G
ENST00000692988.1:n.1962T>G (AFG3L2)
ENST00000269143.8:c.2144T>G (AFG3L2) MANE Select	ENSP00000269143.2:p.Leu715Arg
ENST00000269143.7:c.2144T>G (AFG3L2)	ENSP00000269143.2:p.Leu715Arg
ENST00000586691.1:c.88-6677A>C (TUBB6)
NM_006796.2:c.2144T>G , LRG_666t1:c.2144T>G (AFG3L2)	NP_006787.2:p.Leu715Arg
XM_011525601.1:c.1943T>G (AFG3L2)	XP_011523903.1:p.Leu648Arg
XM_011525601.3:c.1943T>G (AFG3L2)	XP_011523903.1:p.Leu648Arg
XR_002958227.1:n.451+470A>C
NM_006796.3:c.2144T>G (AFG3L2) MANE Select	NP_006787.2:p.Leu715Arg