Canonical Allele Identifier: CA52252269
Gene: SUCLG1 HGNC NCBI

Linked Data

dbSNP Id: rs1044675062
gnomAD v3: 2-84425351-C-T
gnomAD v4: 2-84425351-C-T
MyVariant Identifiers: chr2:g.84652475C>T (hg19) chr2:g.84425351C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.84425351C>T , CM000664.2:g.84425351C>T GRCh38
NC_000002.11:g.84652475C>T , CM000664.1:g.84652475C>T GRCh37
NC_000002.10:g.84505986C>T NCBI36
NG_016755.1:g.39112G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000393868.7:c.1014+64G>A MANE Select ENSP00000377446.2:n.1014+64G>A
ENST00000651342.1:c.*454+64G>A ENSP00000498471.1:n.*454+64G>A
ENST00000393868.6:c.1014+64G>A ENSP00000377446.2:n.1014+64G>A
ENST00000484365.1:n.1522+64G>A
ENST00000491123.5:n.860+64G>A
NM_003849.3:c.1014+64G>A NP_003840.2:n.1014+64G>A
NM_003849.4:c.1014+64G>A MANE Select NP_003840.2:n.1014+64G>A
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