Canonical Allele Identifier: CA401951820

Gene: AFG3L2

Linked Data

• ClinVar Variation Id: 889790
• ClinVar RCV Id: RCV001123909
• dbSNP Id: rs1908301962
• gnomAD v4: 18-12351121-C-A
• MyVariant Identifiers: chr18:g.12351120C>A (hg19) ; chr18:g.12351121C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.12351121C>A , CM000680.2:g.12351121C>A	GRCh38
NC_000018.9:g.12351120C>A , CM000680.1:g.12351120C>A	GRCh37
NC_000018.8:g.12341120C>A	NCBI36
NG_023361.1:g.31156G>T , LRG_666:g.31156G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000687337.1:c.*1112G>T	ENSP00000508998.1:n.*1112G>T
ENST00000688199.1:c.1378G>T	ENSP00000510237.1:p.Ala460Ser
ENST00000691179.1:c.1441G>T	ENSP00000509010.1:p.Ala481Ser
ENST00000691970.1:c.*893G>T	ENSP00000508440.1:n.*893G>T
ENST00000692497.1:c.1516G>T	ENSP00000509870.1:p.Ala506Ser
ENST00000692988.1:n.1334G>T
ENST00000269143.8:c.1516G>T MANE Select	ENSP00000269143.2:p.Ala506Ser
ENST00000269143.7:c.1516G>T	ENSP00000269143.2:p.Ala506Ser
NM_006796.2:c.1516G>T , LRG_666t1:c.1516G>T	NP_006787.2:p.Ala506Ser
XM_011525601.1:c.1516G>T	XP_011523903.1:p.Ala506Ser
XM_011525601.3:c.1516G>T	XP_011523903.1:p.Ala506Ser
NM_006796.3:c.1516G>T MANE Select	NP_006787.2:p.Ala506Ser