Canonical Allele Identifier: CA534198007
Gene: SUCLG1 HGNC NCBI

Linked Data

dbSNP Id: rs772296004
gnomAD v2: 2-84652773-C-A
gnomAD v4: 2-84425649-C-A
MyVariant Identifiers: chr2:g.84652773C>A (hg19) chr2:g.84425649C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.84425649C>A , CM000664.2:g.84425649C>A GRCh38
NC_000002.11:g.84652773C>A , CM000664.1:g.84652773C>A GRCh37
NC_000002.10:g.84506284C>A NCBI36
NG_016755.1:g.38814G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000393868.7:c.826-46G>T MANE Select ENSP00000377446.2:n.826-46G>T
ENST00000651342.1:c.*266-46G>T ENSP00000498471.1:n.*266-46G>T
ENST00000393868.6:c.826-46G>T ENSP00000377446.2:n.826-46G>T
ENST00000484365.1:n.1288G>T
ENST00000487809.1:n.573-46G>T
ENST00000491123.5:n.672-46G>T
NM_003849.3:c.826-46G>T NP_003840.2:n.826-46G>T
NM_003849.4:c.826-46G>T MANE Select NP_003840.2:n.826-46G>T
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