Canonical Allele Identifier: CA3069053
Gene: IL2 HGNC NCBI
COSMIC:
COSM5432718 (not active)
MyVariant.info:
GRCh38 chr4:g.122456327C>A
GRCh37 chr4:g.123377482C>A
gnomAD v2:
4:123377482 C / A
gnomAD v3:
4:122456327 C / A
gnomAD v4:
chr4-122456327-C-A
Joint Max Group AF 0.48471372 (EAS)
Genomes Max Group AF 0.46102042 (EAS)
Exomes Max Group AF 0.48610866 (EAS)
dbSNP:
2069763
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.122456327C>A , CM000666.2:g.122456327C>A GRCh38
NC_000004.11:g.123377482C>A , CM000666.1:g.123377482C>A GRCh37
NC_000004.10:g.123596932C>A NCBI36
NG_016779.1:g.5169G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000226730.5:c.114G>T MANE Select ENSP00000226730.5:p.Leu38=
ENST00000226730.4:c.114G>T ENSP00000226730.4:p.Leu38=
ENST00000477645.1:n.114G>T
NM_000586.3:c.114G>T NP_000577.2:p.Leu38=
XM_017008177.1:c.114G>T XP_016863666.1:p.Leu38=
NM_000586.4:c.114G>T MANE Select NP_000577.2:p.Leu38=
Search 100 bp 5'
Search 100 bp 3'