Canonical Allele Identifier: CA16620662
Gene: AFG3L2 HGNC NCBI

Linked Data

ClinVar Variation Id: 421665
ClinVar RCV Id: RCV000486261
dbSNP Id: rs1064795281
MyVariant Identifiers: chr18:g.12356704C>T (hg19) chr18:g.12356705C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.12356705C>T , CM000680.2:g.12356705C>T GRCh38
NC_000018.9:g.12356704C>T , CM000680.1:g.12356704C>T GRCh37
NC_000018.8:g.12346704C>T NCBI36
NG_023361.1:g.25572G>A , LRG_666:g.25572G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000687337.1:c.*749G>A ENSP00000508998.1:n.*749G>A
ENST00000688199.1:c.1026+1965G>A ENSP00000510237.1:n.1026+1965G>A
ENST00000691179.1:c.1078G>A ENSP00000509010.1:p.Gly360Ser
ENST00000691970.1:c.*530G>A ENSP00000508440.1:n.*530G>A
ENST00000692497.1:c.1153G>A ENSP00000509870.1:p.Gly385Ser
ENST00000692988.1:n.971G>A
ENST00000269143.8:c.1153G>A MANE Select ENSP00000269143.2:p.Gly385Ser
ENST00000269143.7:c.1153G>A ENSP00000269143.2:p.Gly385Ser
NM_006796.2:c.1153G>A , LRG_666t1:c.1153G>A NP_006787.2:p.Gly385Ser
XM_011525601.1:c.1153G>A XP_011523903.1:p.Gly385Ser
XM_011525601.3:c.1153G>A XP_011523903.1:p.Gly385Ser
NM_006796.3:c.1153G>A MANE Select NP_006787.2:p.Gly385Ser
Search 100 bp 5'
Search 100 bp 3'