Canonical Allele Identifier: CA347514815
Gene: SUCLG1 HGNC NCBI

Linked Data

dbSNP Id: rs1370330089
gnomAD v2: 2-84652703-A-G
gnomAD v4: 2-84425579-A-G
MyVariant Identifiers: chr2:g.84652703A>G (hg19) chr2:g.84425579A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.84425579A>G , CM000664.2:g.84425579A>G GRCh38
NC_000002.11:g.84652703A>G , CM000664.1:g.84652703A>G GRCh37
NC_000002.10:g.84506214A>G NCBI36
NG_016755.1:g.38884T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000393868.7:c.850T>C MANE Select ENSP00000377446.2:p.Ser284Pro
ENST00000651342.1:c.*290T>C ENSP00000498471.1:n.*290T>C
ENST00000393868.6:c.850T>C ENSP00000377446.2:p.Ser284Pro
ENST00000484365.1:n.1358T>C
ENST00000487809.1:n.597T>C
ENST00000491123.5:n.696T>C
NM_003849.3:c.850T>C NP_003840.2:p.Ser284Pro
NM_003849.4:c.850T>C MANE Select NP_003840.2:p.Ser284Pro
Search 100 bp 5'
Search 100 bp 3'