Canonical Allele Identifier: CA401951865

Gene: AFG3L2

Linked Data

• MyVariant Identifiers: chr18:g.12351129C>T (hg19) ; chr18:g.12351130C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.12351130C>T , CM000680.2:g.12351130C>T	GRCh38
NC_000018.9:g.12351129C>T , CM000680.1:g.12351129C>T	GRCh37
NC_000018.8:g.12341129C>T	NCBI36
NG_023361.1:g.31147G>A , LRG_666:g.31147G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000687337.1:c.*1103G>A	ENSP00000508998.1:n.*1103G>A
ENST00000688199.1:c.1369G>A	ENSP00000510237.1:p.Asp457Asn
ENST00000691179.1:c.1432G>A	ENSP00000509010.1:p.Asp478Asn
ENST00000691970.1:c.*884G>A	ENSP00000508440.1:n.*884G>A
ENST00000692497.1:c.1507G>A	ENSP00000509870.1:p.Asp503Asn
ENST00000692988.1:n.1325G>A
ENST00000269143.8:c.1507G>A MANE Select	ENSP00000269143.2:p.Asp503Asn
ENST00000269143.7:c.1507G>A	ENSP00000269143.2:p.Asp503Asn
NM_006796.2:c.1507G>A , LRG_666t1:c.1507G>A	NP_006787.2:p.Asp503Asn
XM_011525601.1:c.1507G>A	XP_011523903.1:p.Asp503Asn
XM_011525601.3:c.1507G>A	XP_011523903.1:p.Asp503Asn
NM_006796.3:c.1507G>A MANE Select	NP_006787.2:p.Asp503Asn