Canonical Allele Identifier: CA401952331

Gene: AFG3L2

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.12351335G>C , CM000680.2:g.12351335G>C	GRCh38
NC_000018.9:g.12351334G>C , CM000680.1:g.12351334G>C	GRCh37
NC_000018.8:g.12341334G>C	NCBI36
NG_023361.1:g.30942C>G , LRG_666:g.30942C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_006796.3:c.1397C>G MANE Select	NP_006787.2:p.Pro466Arg
ENST00000269143.8:c.1397C>G MANE Select	ENSP00000269143.2:p.Pro466Arg
NM_006796.2:c.1397C>G , LRG_666t1:c.1397C>G	NP_006787.2:p.Pro466Arg
ENST00000269143.7:c.1397C>G	ENSP00000269143.2:p.Pro466Arg
ENST00000687337.1:c.*993C>G	ENSP00000508998.1:n.*993C>G
ENST00000688199.1:c.1259C>G	ENSP00000510237.1:p.Pro420Arg
ENST00000691179.1:c.1322C>G	ENSP00000509010.1:p.Pro441Arg
ENST00000691970.1:c.*774C>G	ENSP00000508440.1:n.*774C>G
ENST00000692497.1:c.1397C>G	ENSP00000509870.1:p.Pro466Arg
ENST00000692988.1:n.1215C>G
XM_011525601.1:c.1397C>G	XP_011523903.1:p.Pro466Arg
XM_011525601.3:c.1397C>G	XP_011523903.1:p.Pro466Arg