Canonical Allele Identifier: CA401951832

Gene: AFG3L2

Linked Data

• dbSNP Id: rs1253449139
• gnomAD v2: 18-12351122-A-T
• gnomAD v4: 18-12351123-A-T
• MyVariant Identifiers: chr18:g.12351122A>T (hg19) ; chr18:g.12351123A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.12351123A>T , CM000680.2:g.12351123A>T	GRCh38
NC_000018.9:g.12351122A>T , CM000680.1:g.12351122A>T	GRCh37
NC_000018.8:g.12341122A>T	NCBI36
NG_023361.1:g.31154T>A , LRG_666:g.31154T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000687337.1:c.*1110T>A	ENSP00000508998.1:n.*1110T>A
ENST00000688199.1:c.1376T>A	ENSP00000510237.1:p.Leu459Ter
ENST00000691179.1:c.1439T>A	ENSP00000509010.1:p.Leu480Ter
ENST00000691970.1:c.*891T>A	ENSP00000508440.1:n.*891T>A
ENST00000692497.1:c.1514T>A	ENSP00000509870.1:p.Leu505Ter
ENST00000692988.1:n.1332T>A
ENST00000269143.8:c.1514T>A MANE Select	ENSP00000269143.2:p.Leu505Ter
ENST00000269143.7:c.1514T>A	ENSP00000269143.2:p.Leu505Ter
NM_006796.2:c.1514T>A , LRG_666t1:c.1514T>A	NP_006787.2:p.Leu505Ter
XM_011525601.1:c.1514T>A	XP_011523903.1:p.Leu505Ter
XM_011525601.3:c.1514T>A	XP_011523903.1:p.Leu505Ter
NM_006796.3:c.1514T>A MANE Select	NP_006787.2:p.Leu505Ter