Canonical Allele Identifier: CA296726451

Gene: AFG3L2

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.12377030C>A , CM000680.2:g.12377030C>A	GRCh38
NC_000018.9:g.12377029C>A , CM000680.1:g.12377029C>A	GRCh37
NC_000018.8:g.12367029C>A	NCBI36
NG_023361.1:g.5247G>T , LRG_666:g.5247G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_006796.3:c.53G>T MANE Select	NP_006787.2:p.Gly18Val
ENST00000269143.8:c.53G>T MANE Select	ENSP00000269143.2:p.Gly18Val
NM_006796.2:c.53G>T , LRG_666t1:c.53G>T	NP_006787.2:p.Gly18Val
ENST00000269143.7:c.53G>T	ENSP00000269143.2:p.Gly18Val
ENST00000687337.1:c.53G>T	ENSP00000508998.1:p.Gly18Val
ENST00000688199.1:c.53G>T	ENSP00000510237.1:p.Gly18Val
ENST00000691179.1:c.53G>T	ENSP00000509010.1:p.Gly18Val
ENST00000691970.1:c.53G>T	ENSP00000508440.1:p.Gly18Val
ENST00000692497.1:c.53G>T	ENSP00000509870.1:p.Gly18Val
XM_011525601.1:c.53G>T	XP_011523903.1:p.Gly18Val
XM_011525601.3:c.53G>T	XP_011523903.1:p.Gly18Val