Canonical Allele Identifier: CA401952956

Gene: AFG3L2

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.12353115A>G , CM000680.2:g.12353115A>G	GRCh38
NC_000018.9:g.12353114A>G , CM000680.1:g.12353114A>G	GRCh37
NC_000018.8:g.12343114A>G	NCBI36
NG_023361.1:g.29162T>C , LRG_666:g.29162T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_006796.3:c.1208T>C MANE Select	NP_006787.2:p.Ile403Thr
ENST00000269143.8:c.1208T>C MANE Select	ENSP00000269143.2:p.Ile403Thr
NM_006796.2:c.1208T>C , LRG_666t1:c.1208T>C	NP_006787.2:p.Ile403Thr
ENST00000269143.7:c.1208T>C	ENSP00000269143.2:p.Ile403Thr
ENST00000687337.1:c.*804T>C	ENSP00000508998.1:n.*804T>C
ENST00000688199.1:c.1070T>C	ENSP00000510237.1:p.Ile357Thr
ENST00000691179.1:c.1133T>C	ENSP00000509010.1:p.Ile378Thr
ENST00000691970.1:c.*585T>C	ENSP00000508440.1:n.*585T>C
ENST00000692497.1:c.1208T>C	ENSP00000509870.1:p.Ile403Thr
ENST00000692988.1:n.1026T>C
XM_011525601.1:c.1208T>C	XP_011523903.1:p.Ile403Thr
XM_011525601.3:c.1208T>C	XP_011523903.1:p.Ile403Thr