Canonical Allele Identifier: CA296700786
Gene: AFG3L2 HGNC NCBI

Linked Data

ClinVar Variation Id: 427103
ClinVar RCV Id: RCV000489336
dbSNP Id: rs1005670966

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.12351097G>A , CM000680.2:g.12351097G>A GRCh38
NC_000018.9:g.12351096G>A , CM000680.1:g.12351096G>A GRCh37
NC_000018.8:g.12341096G>A NCBI36
NG_023361.1:g.31180C>T , LRG_666:g.31180C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000269143.8:c.1540C>T MANE Select ENSP00000269143.2:p.Pro514Ser
ENST00000269143.7:c.1540C>T ENSP00000269143.2:p.Pro514Ser
NM_006796.2:c.1540C>T , LRG_666t1:c.1540C>T NP_006787.2:p.Pro514Ser
XM_011525601.1:c.1540C>T XP_011523903.1:p.Pro514Ser
XM_011525601.3:c.1540C>T XP_011523903.1:p.Pro514Ser
NM_006796.3:c.1540C>T MANE Select NP_006787.2:p.Pro514Ser