Canonical Allele Identifier: CA8896448

Gene: AFG3L2

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.12348290A>G , CM000680.2:g.12348290A>G	GRCh38
NC_000018.9:g.12348289A>G , CM000680.1:g.12348289A>G	GRCh37
NC_000018.8:g.12338289A>G	NCBI36
NG_023361.1:g.33987T>C , LRG_666:g.33987T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_006796.3:c.1646T>C MANE Select	NP_006787.2:p.Ile549Thr
ENST00000269143.8:c.1646T>C MANE Select	ENSP00000269143.2:p.Ile549Thr
NM_006796.2:c.1646T>C , LRG_666t1:c.1646T>C	NP_006787.2:p.Ile549Thr
ENST00000269143.7:c.1646T>C	ENSP00000269143.2:p.Ile549Thr
ENST00000588893.1:n.39T>C
ENST00000687337.1:c.*1242T>C	ENSP00000508998.1:n.*1242T>C
ENST00000688199.1:c.1508T>C	ENSP00000510237.1:p.Ile503Thr
ENST00000691179.1:c.1571T>C	ENSP00000509010.1:p.Ile524Thr
ENST00000691970.1:c.*1023T>C	ENSP00000508440.1:n.*1023T>C
ENST00000692497.1:c.1646T>C	ENSP00000509870.1:p.Ile549Thr
ENST00000692988.1:n.1464T>C
XM_011525601.1:c.1646T>C	XP_011523903.1:p.Ile549Thr
XM_011525601.3:c.1646T>C	XP_011523903.1:p.Ile549Thr