Canonical Allele Identifier: CA401951732

Gene: AFG3L2

Linked Data

• MyVariant Identifiers: chr18:g.12351099T>A (hg19) ; chr18:g.12351100T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.12351100T>A , CM000680.2:g.12351100T>A	GRCh38
NC_000018.9:g.12351099T>A , CM000680.1:g.12351099T>A	GRCh37
NC_000018.8:g.12341099T>A	NCBI36
NG_023361.1:g.31177A>T , LRG_666:g.31177A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000687337.1:c.*1133A>T	ENSP00000508998.1:n.*1133A>T
ENST00000688199.1:c.1399A>T	ENSP00000510237.1:p.Thr467Ser
ENST00000691179.1:c.1462A>T	ENSP00000509010.1:p.Thr488Ser
ENST00000691970.1:c.*914A>T	ENSP00000508440.1:n.*914A>T
ENST00000692497.1:c.1537A>T	ENSP00000509870.1:p.Thr513Ser
ENST00000692988.1:n.1355A>T
ENST00000269143.8:c.1537A>T MANE Select	ENSP00000269143.2:p.Thr513Ser
ENST00000269143.7:c.1537A>T	ENSP00000269143.2:p.Thr513Ser
NM_006796.2:c.1537A>T , LRG_666t1:c.1537A>T	NP_006787.2:p.Thr513Ser
XM_011525601.1:c.1537A>T	XP_011523903.1:p.Thr513Ser
XM_011525601.3:c.1537A>T	XP_011523903.1:p.Thr513Ser
NM_006796.3:c.1537A>T MANE Select	NP_006787.2:p.Thr513Ser