Canonical Allele Identifier: CA401953507

Gene: AFG3L2

Linked Data

• MyVariant Identifiers: chr18:g.12358731C>A (hg19) ; chr18:g.12358732C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.12358732C>A , CM000680.2:g.12358732C>A	GRCh38
NC_000018.9:g.12358731C>A , CM000680.1:g.12358731C>A	GRCh37
NC_000018.8:g.12348731C>A	NCBI36
NG_023361.1:g.23545G>T , LRG_666:g.23545G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000687337.1:c.*560G>T	ENSP00000508998.1:n.*560G>T
ENST00000688199.1:c.964G>T	ENSP00000510237.1:p.Glu322Ter
ENST00000691179.1:c.889G>T	ENSP00000509010.1:p.Glu297Ter
ENST00000691970.1:c.*341G>T	ENSP00000508440.1:n.*341G>T
ENST00000692497.1:c.964G>T	ENSP00000509870.1:p.Glu322Ter
ENST00000692988.1:n.782G>T
ENST00000269143.8:c.964G>T MANE Select	ENSP00000269143.2:p.Glu322Ter
ENST00000269143.7:c.964G>T	ENSP00000269143.2:p.Glu322Ter
ENST00000590811.1:c.599G>T
NM_006796.2:c.964G>T , LRG_666t1:c.964G>T	NP_006787.2:p.Glu322Ter
XM_011525601.1:c.964G>T	XP_011523903.1:p.Glu322Ter
XM_011525601.3:c.964G>T	XP_011523903.1:p.Glu322Ter
NM_006796.3:c.964G>T MANE Select	NP_006787.2:p.Glu322Ter