Canonical Allele Identifier: CA325224
Gene: AFG3L2 HGNC NCBI

Linked Data

ClinVar Variation Id: 214053
ClinVar RCV Id: RCV000289354 RCV000660399 RCV002517192
dbSNP Id: rs375098002
gnomAD v4: 18-12351335-G-A
MyVariant Identifiers: chr18:g.12351334G>A (hg19) chr18:g.12351335G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.12351335G>A , CM000680.2:g.12351335G>A GRCh38
NC_000018.9:g.12351334G>A , CM000680.1:g.12351334G>A GRCh37
NC_000018.8:g.12341334G>A NCBI36
NG_023361.1:g.30942C>T , LRG_666:g.30942C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000687337.1:c.*993C>T ENSP00000508998.1:n.*993C>T
ENST00000688199.1:c.1259C>T ENSP00000510237.1:p.Pro420Leu
ENST00000691179.1:c.1322C>T ENSP00000509010.1:p.Pro441Leu
ENST00000691970.1:c.*774C>T ENSP00000508440.1:n.*774C>T
ENST00000692497.1:c.1397C>T ENSP00000509870.1:p.Pro466Leu
ENST00000692988.1:n.1215C>T
ENST00000269143.8:c.1397C>T MANE Select ENSP00000269143.2:p.Pro466Leu
ENST00000269143.7:c.1397C>T ENSP00000269143.2:p.Pro466Leu
NM_006796.2:c.1397C>T , LRG_666t1:c.1397C>T NP_006787.2:p.Pro466Leu
XM_011525601.1:c.1397C>T XP_011523903.1:p.Pro466Leu
XM_011525601.3:c.1397C>T XP_011523903.1:p.Pro466Leu
NM_006796.3:c.1397C>T MANE Select NP_006787.2:p.Pro466Leu
Search 100 bp 5'
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