Canonical Allele Identifier: CA104789944
Gene: IL2 HGNC NCBI
MyVariant.info:
GRCh38 chr4:g.122451978T>C
GRCh37 chr4:g.123373133T>C
gnomAD v2:
4:123373133 T / C
gnomAD v3:
4:122451978 T / C
gnomAD v4:
chr4-122451978-T-C
Joint Max Group AF 0.27778206 (NFE)
Genomes Max Group AF 0.27512085 (NFE)
Exomes Max Group AF 0.27793979 (NFE)
dbSNP:
2069772
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.122451978T>C , CM000666.2:g.122451978T>C GRCh38
NC_000004.11:g.123373133T>C , CM000666.1:g.123373133T>C GRCh37
NC_000004.10:g.123592583T>C NCBI36
NG_016779.1:g.9518A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000226730.5:c.352-116A>G MANE Select ENSP00000226730.5:n.352-116A>G
ENST00000226730.4:c.352-116A>G ENSP00000226730.4:n.352-116A>G
ENST00000477645.1:n.442-116A>G
NM_000586.3:c.352-116A>G NP_000577.2:n.352-116A>G
XM_017008177.1:c.351+1732A>G XP_016863666.1:n.351+1732A>G
NM_000586.4:c.352-116A>G MANE Select NP_000577.2:n.352-116A>G
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