Canonical Allele Identifier: CA401953166

Gene: AFG3L2

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.12356741T>G , CM000680.2:g.12356741T>G	GRCh38
NC_000018.9:g.12356740T>G , CM000680.1:g.12356740T>G	GRCh37
NC_000018.8:g.12346740T>G	NCBI36
NG_023361.1:g.25536A>C , LRG_666:g.25536A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_006796.3:c.1117A>C MANE Select	NP_006787.2:p.Ser373Arg
ENST00000269143.8:c.1117A>C MANE Select	ENSP00000269143.2:p.Ser373Arg
NM_006796.2:c.1117A>C , LRG_666t1:c.1117A>C	NP_006787.2:p.Ser373Arg
ENST00000269143.7:c.1117A>C	ENSP00000269143.2:p.Ser373Arg
ENST00000687337.1:c.*713A>C	ENSP00000508998.1:n.*713A>C
ENST00000688199.1:c.1026+1929A>C	ENSP00000510237.1:n.1026+1929A>C
ENST00000691179.1:c.1042A>C	ENSP00000509010.1:p.Ser348Arg
ENST00000691970.1:c.*494A>C	ENSP00000508440.1:n.*494A>C
ENST00000692497.1:c.1117A>C	ENSP00000509870.1:p.Ser373Arg
ENST00000692988.1:n.935A>C
XM_011525601.1:c.1117A>C	XP_011523903.1:p.Ser373Arg
XM_011525601.3:c.1117A>C	XP_011523903.1:p.Ser373Arg