Canonical Allele Identifier: CA10612463

Gene: SUMO1

Linked Data

• ClinVar Variation Id: 333609
• ClinVar RCV Id: RCV000379139
• dbSNP Id: rs537401465
• gnomAD v2: 2-203071032-C-G
• gnomAD v3: 2-202206309-C-G
• gnomAD v4: 2-202206309-C-G
• MyVariant Identifiers: chr2:g.203071032C>G (hg19) ; chr2:g.202206309C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.202206309C>G , CM000664.2:g.202206309C>G	GRCh38
NC_000002.11:g.203071032C>G , CM000664.1:g.203071032C>G	GRCh37
NC_000002.10:g.202779277C>G	NCBI36
NG_011679.1:g.37291G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392246.7:c.*944G>C MANE Select	ENSP00000376077.2:n.*944G>C
ENST00000392245.5:c.*495G>C	ENSP00000376076.1:n.*495G>C
ENST00000392246.6:c.*944G>C	ENSP00000376077.2:n.*944G>C
NM_001005781.1:c.*495G>C	NP_001005781.1:n.*495G>C
NM_001005782.1:c.*944G>C	NP_001005782.1:n.*944G>C
NM_003352.4:c.*944G>C	NP_003343.1:n.*944G>C
NM_001005781.2:c.*495G>C	NP_001005781.1:n.*495G>C
NM_001005782.2:c.*944G>C	NP_001005782.1:n.*944G>C
NM_001371392.1:c.*944G>C	NP_001358321.1:n.*944G>C
NM_001371393.1:c.*944G>C	NP_001358322.1:n.*944G>C
NM_001371394.1:c.*944G>C	NP_001358323.1:n.*944G>C
NM_003352.8:c.*944G>C MANE Select	NP_003343.1:n.*944G>C
NR_163943.1:n.1169G>C