Canonical Allele Identifier: CA16043026
Gene: AFG3L2 HGNC NCBI

Linked Data

ClinVar Variation Id: 372850
ClinVar RCV Id: RCV000413869
dbSNP Id: rs1057518024
MyVariant Identifiers: chr18:g.12358731C>T (hg19) chr18:g.12358732C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.12358732C>T , CM000680.2:g.12358732C>T GRCh38
NC_000018.9:g.12358731C>T , CM000680.1:g.12358731C>T GRCh37
NC_000018.8:g.12348731C>T NCBI36
NG_023361.1:g.23545G>A , LRG_666:g.23545G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000687337.1:c.*560G>A ENSP00000508998.1:n.*560G>A
ENST00000688199.1:c.964G>A ENSP00000510237.1:p.Glu322Lys
ENST00000691179.1:c.889G>A ENSP00000509010.1:p.Glu297Lys
ENST00000691970.1:c.*341G>A ENSP00000508440.1:n.*341G>A
ENST00000692497.1:c.964G>A ENSP00000509870.1:p.Glu322Lys
ENST00000692988.1:n.782G>A
ENST00000269143.8:c.964G>A MANE Select ENSP00000269143.2:p.Glu322Lys
ENST00000269143.7:c.964G>A ENSP00000269143.2:p.Glu322Lys
ENST00000590811.1:c.599G>A
NM_006796.2:c.964G>A , LRG_666t1:c.964G>A NP_006787.2:p.Glu322Lys
XM_011525601.1:c.964G>A XP_011523903.1:p.Glu322Lys
XM_011525601.3:c.964G>A XP_011523903.1:p.Glu322Lys
NM_006796.3:c.964G>A MANE Select NP_006787.2:p.Glu322Lys
Search 100 bp 5'
Search 100 bp 3'