Canonical Allele Identifier: CA401952340

Gene: AFG3L2

Linked Data

• MyVariant Identifiers: chr18:g.12351335G>T (hg19) ; chr18:g.12351336G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.12351336G>T , CM000680.2:g.12351336G>T	GRCh38
NC_000018.9:g.12351335G>T , CM000680.1:g.12351335G>T	GRCh37
NC_000018.8:g.12341335G>T	NCBI36
NG_023361.1:g.30941C>A , LRG_666:g.30941C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000687337.1:c.*992C>A	ENSP00000508998.1:n.*992C>A
ENST00000688199.1:c.1258C>A	ENSP00000510237.1:p.Pro420Thr
ENST00000691179.1:c.1321C>A	ENSP00000509010.1:p.Pro441Thr
ENST00000691970.1:c.*773C>A	ENSP00000508440.1:n.*773C>A
ENST00000692497.1:c.1396C>A	ENSP00000509870.1:p.Pro466Thr
ENST00000692988.1:n.1214C>A
ENST00000269143.8:c.1396C>A MANE Select	ENSP00000269143.2:p.Pro466Thr
ENST00000269143.7:c.1396C>A	ENSP00000269143.2:p.Pro466Thr
NM_006796.2:c.1396C>A , LRG_666t1:c.1396C>A	NP_006787.2:p.Pro466Thr
XM_011525601.1:c.1396C>A	XP_011523903.1:p.Pro466Thr
XM_011525601.3:c.1396C>A	XP_011523903.1:p.Pro466Thr
NM_006796.3:c.1396C>A MANE Select	NP_006787.2:p.Pro466Thr