Canonical Allele Identifier: CA347515105
Gene: SUCLG1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1802144
ClinVar RCV Id: RCV002464962
MyVariant Identifiers: chr2:g.84658738A>C (hg19) chr2:g.84431614A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.84431614A>C , CM000664.2:g.84431614A>C GRCh38
NC_000002.11:g.84658738A>C , CM000664.1:g.84658738A>C GRCh37
NC_000002.10:g.84512249A>C NCBI36
NG_016755.1:g.32849T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000393868.7:c.719T>G MANE Select ENSP00000377446.2:p.Leu240Arg
ENST00000651342.1:c.*159T>G ENSP00000498471.1:n.*159T>G
ENST00000393868.6:c.719T>G ENSP00000377446.2:p.Leu240Arg
ENST00000487809.1:n.466T>G
ENST00000491123.5:n.565T>G
NM_003849.3:c.719T>G NP_003840.2:p.Leu240Arg
NM_003849.4:c.719T>G MANE Select NP_003840.2:p.Leu240Arg
Search 100 bp 5'
Search 100 bp 3'