Canonical Allele Identifier: CA401951760

Gene: AFG3L2

Linked Data

• gnomAD v4: 18-12351108-G-A
• MyVariant Identifiers: chr18:g.12351107G>A (hg19) ; chr18:g.12351108G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.12351108G>A , CM000680.2:g.12351108G>A	GRCh38
NC_000018.9:g.12351107G>A , CM000680.1:g.12351107G>A	GRCh37
NC_000018.8:g.12341107G>A	NCBI36
NG_023361.1:g.31169C>T , LRG_666:g.31169C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000687337.1:c.*1125C>T	ENSP00000508998.1:n.*1125C>T
ENST00000688199.1:c.1391C>T	ENSP00000510237.1:p.Ala464Val
ENST00000691179.1:c.1454C>T	ENSP00000509010.1:p.Ala485Val
ENST00000691970.1:c.*906C>T	ENSP00000508440.1:n.*906C>T
ENST00000692497.1:c.1529C>T	ENSP00000509870.1:p.Ala510Val
ENST00000692988.1:n.1347C>T
ENST00000269143.8:c.1529C>T MANE Select	ENSP00000269143.2:p.Ala510Val
ENST00000269143.7:c.1529C>T	ENSP00000269143.2:p.Ala510Val
NM_006796.2:c.1529C>T , LRG_666t1:c.1529C>T	NP_006787.2:p.Ala510Val
XM_011525601.1:c.1529C>T	XP_011523903.1:p.Ala510Val
XM_011525601.3:c.1529C>T	XP_011523903.1:p.Ala510Val
NM_006796.3:c.1529C>T MANE Select	NP_006787.2:p.Ala510Val