Canonical Allele Identifier: CA347946921

Gene: IL18RAP

Linked Data

• dbSNP Id: rs1428853287
• gnomAD v2: 2-103068295-A-G
• gnomAD v4: 2-102451835-A-G
• MyVariant Identifiers: chr2:g.103068295A>G (hg19) ; chr2:g.102451835A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.102451835A>G , CM000664.2:g.102451835A>G	GRCh38
NC_000002.11:g.103068295A>G , CM000664.1:g.103068295A>G	GRCh37
NC_000002.10:g.102434727A>G	NCBI36
NG_011481.1:g.38042A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000687160.1:c.1454A>G MANE Select	ENSP00000510345.1:p.Tyr485Cys
ENST00000264260.6:c.1454A>G	ENSP00000264260.2:p.Tyr485Cys
ENST00000409369.1:c.1028A>G	ENSP00000387201.1:p.Tyr343Cys
NM_003853.3:c.1454A>G	NP_003844.1:p.Tyr485Cys
XM_011512087.1:c.1028A>G	XP_011510389.1:p.Tyr343Cys
XM_011512088.1:c.1028A>G	XP_011510390.1:p.Tyr343Cys
XM_011512087.2:c.1028A>G	XP_011510389.1:p.Tyr343Cys
XM_011512088.2:c.1028A>G	XP_011510390.1:p.Tyr343Cys
XM_017005173.1:c.596A>G	XP_016860662.1:p.Tyr199Cys
XM_024453197.1:c.1454A>G	XP_024308965.1:p.Tyr485Cys
XM_024453198.1:c.1454A>G	XP_024308966.1:p.Tyr485Cys
XM_024453199.1:c.1454A>G	XP_024308967.1:p.Tyr485Cys
XM_024453200.1:c.1454A>G	XP_024308968.1:p.Tyr485Cys
XM_024453201.1:c.1454A>G	XP_024308969.1:p.Tyr485Cys
NM_001393486.1:c.1454A>G	NP_001380415.1:p.Tyr485Cys
NM_001393487.1:c.1454A>G MANE Select	NP_001380416.1:p.Tyr485Cys
NM_001393488.1:c.1028A>G	NP_001380417.1:p.Tyr343Cys
NM_001393489.1:c.1028A>G	NP_001380418.1:p.Tyr343Cys
NM_003853.4:c.1454A>G	NP_003844.1:p.Tyr485Cys