Canonical Allele Identifier: CA296701043

Gene: AFG3L2

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.12351347G>A , CM000680.2:g.12351347G>A	GRCh38
NC_000018.9:g.12351346G>A , CM000680.1:g.12351346G>A	GRCh37
NC_000018.8:g.12341346G>A	NCBI36
NG_023361.1:g.30930C>T , LRG_666:g.30930C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_006796.3:c.1385C>T MANE Select	NP_006787.2:p.Ala462Val
ENST00000269143.8:c.1385C>T MANE Select	ENSP00000269143.2:p.Ala462Val
NM_006796.2:c.1385C>T , LRG_666t1:c.1385C>T	NP_006787.2:p.Ala462Val
ENST00000269143.7:c.1385C>T	ENSP00000269143.2:p.Ala462Val
ENST00000687337.1:c.*981C>T	ENSP00000508998.1:n.*981C>T
ENST00000688199.1:c.1247C>T	ENSP00000510237.1:p.Ala416Val
ENST00000691179.1:c.1310C>T	ENSP00000509010.1:p.Ala437Val
ENST00000691970.1:c.*762C>T	ENSP00000508440.1:n.*762C>T
ENST00000692497.1:c.1385C>T	ENSP00000509870.1:p.Ala462Val
ENST00000692988.1:n.1203C>T
XM_011525601.1:c.1385C>T	XP_011523903.1:p.Ala462Val
XM_011525601.3:c.1385C>T	XP_011523903.1:p.Ala462Val