Canonical Allele Identifier: CA2067192
Gene: ICOS HGNC NCBI

Linked Data

ClinVar Variation Id: 439812
ClinVar RCV Id: RCV000508428 RCV001080790 RCV003935326
dbSNP Id: rs77411896
ExAC: 2:204801577 C / T
gnomAD v2: 2-204801577-C-T
gnomAD v3: 2-203936854-C-T
gnomAD v4: 2-203936854-C-T
MyVariant Identifiers: chr2:g.204801577C>T (hg19) chr2:g.203936854C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.203936854C>T , CM000664.2:g.203936854C>T GRCh38
NC_000002.11:g.204801577C>T , CM000664.1:g.204801577C>T GRCh37
NC_000002.10:g.204509822C>T NCBI36
NG_011586.1:g.5075C>T , LRG_65:g.5075C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000316386.11:c.40C>T MANE Select ENSP00000319476.6:p.Arg14Cys
ENST00000316386.10:c.40C>T ENSP00000319476.6:p.Arg14Cys
ENST00000435193.1:c.40C>T ENSP00000415951.1:p.Arg14Cys
NM_012092.3:c.40C>T , LRG_65t1:c.40C>T NP_036224.1:p.Arg14Cys
XM_011511028.1:c.40C>T XP_011509330.1:p.Arg14Cys
XM_011511030.1:c.-378C>T XP_011509332.1:n.-378C>T
XM_011511031.1:c.-282C>T XP_011509333.1:n.-282C>T
XR_427213.2:n.366+463G>A
XR_001739861.1:n.380+463G>A
XR_427213.3:n.380+463G>A
NM_012092.4:c.40C>T MANE Select NP_036224.1:p.Arg14Cys
Search 100 bp 5'
Search 100 bp 3'