Canonical Allele Identifier: CA2067284

Gene: ICOS

Linked Data

• ClinVar Variation Id: 497910
• ClinVar RCV Id: RCV000591514 ; RCV000999898 ; RCV003925776
• dbSNP Id: rs76778263
• ExAC: 2:204821438 G / C
• gnomAD v2: 2-204821438-G-C
• gnomAD v3: 2-203956715-G-C
• gnomAD v4: 2-203956715-G-C
• MyVariant Identifiers: chr2:g.204821438G>C (hg19) ; chr2:g.203956715G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.203956715G>C , CM000664.2:g.203956715G>C	GRCh38
NC_000002.11:g.204821438G>C , CM000664.1:g.204821438G>C	GRCh37
NC_000002.10:g.204529683G>C	NCBI36
NG_011586.1:g.24936G>C , LRG_65:g.24936G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000316386.11:c.451G>C MANE Select	ENSP00000319476.6:p.Val151Leu
ENST00000316386.10:c.451G>C	ENSP00000319476.6:p.Val151Leu
ENST00000435193.1:c.451G>C	ENSP00000415951.1:p.Val151Leu
NM_012092.3:c.451G>C , LRG_65t1:c.451G>C	NP_036224.1:p.Val151Leu
XM_011511028.1:c.451G>C	XP_011509330.1:p.Val151Leu
XM_011511029.1:c.454G>C	XP_011509331.1:p.Val152Leu
XM_011511030.1:c.364G>C	XP_011509332.1:p.Val122Leu
XM_011511031.1:c.364G>C	XP_011509333.1:p.Val122Leu
NM_012092.4:c.451G>C MANE Select	NP_036224.1:p.Val151Leu