Canonical Allele Identifier: CA288674

Gene: AFG3L2

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.12348286T>C , CM000680.2:g.12348286T>C	GRCh38
NC_000018.9:g.12348285T>C , CM000680.1:g.12348285T>C	GRCh37
NC_000018.8:g.12338285T>C	NCBI36
NG_023361.1:g.33991A>G , LRG_666:g.33991A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_006796.3:c.1650A>G MANE Select	NP_006787.2:p.Glu550=
ENST00000269143.8:c.1650A>G MANE Select	ENSP00000269143.2:p.Glu550=
NM_006796.2:c.1650A>G , LRG_666t1:c.1650A>G	NP_006787.2:p.Glu550=
ENST00000269143.7:c.1650A>G	ENSP00000269143.2:p.Glu550=
ENST00000588893.1:n.43A>G
ENST00000687337.1:c.*1246A>G	ENSP00000508998.1:n.*1246A>G
ENST00000688199.1:c.1512A>G	ENSP00000510237.1:p.Glu504=
ENST00000691179.1:c.1575A>G	ENSP00000509010.1:p.Glu525=
ENST00000691970.1:c.*1027A>G	ENSP00000508440.1:n.*1027A>G
ENST00000692497.1:c.1650A>G	ENSP00000509870.1:p.Glu550=
ENST00000692988.1:n.1468A>G
XM_011525601.1:c.1650A>G	XP_011523903.1:p.Glu550=
XM_011525601.3:c.1650A>G	XP_011523903.1:p.Glu550=