Canonical Allele Identifier: CA404781428

Gene: IL12RB1

Linked Data

• ClinVar Variation Id: 2077525
• ClinVar RCV Id: RCV002985566
• MyVariant Identifiers: chr19:g.18186593C>G (hg19) ; chr19:g.18075783C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.18075783C>G , CM000681.2:g.18075783C>G	GRCh38
NC_000019.9:g.18186593C>G , CM000681.1:g.18186593C>G	GRCh37
NC_000019.8:g.18047593C>G	NCBI36
NG_007366.2:g.28167G>C , LRG_72:g.28167G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593993.7:c.666G>C MANE Select	ENSP00000472165.2:p.Trp222Cys
ENST00000322153.11:c.666G>C	ENSP00000314425.5:p.Trp222Cys
ENST00000593993.6:c.666G>C	ENSP00000472165.2:p.Trp222Cys
ENST00000600835.6:c.666G>C	ENSP00000470788.1:p.Trp222Cys
NM_001290023.1:c.666G>C	NP_001276952.1:p.Trp222Cys
NM_001290024.1:c.786G>C	NP_001276953.1:p.Trp262Cys
NM_005535.2:c.666G>C	NP_005526.1:p.Trp222Cys
NM_153701.2:c.666G>C	NP_714912.1:p.Trp222Cys
XM_006722741.2:c.786G>C	XP_006722804.2:p.Trp262Cys
XM_011527966.1:c.798G>C	XP_011526268.1:p.Trp266Cys
XM_011527967.1:c.786G>C	XP_011526269.1:p.Trp262Cys
XM_011527968.1:c.798G>C	XP_011526270.1:p.Trp266Cys
XM_011527969.1:c.786G>C	XP_011526271.1:p.Trp262Cys
XM_011527970.1:c.798G>C	XP_011526272.1:p.Trp266Cys
XM_011527971.1:c.798G>C	XP_011526273.1:p.Trp266Cys
XM_011527972.1:c.798G>C	XP_011526274.1:p.Trp266Cys
XM_011527973.1:c.678G>C	XP_011526275.1:p.Trp226Cys
XM_011527974.1:c.666G>C	XP_011526276.1:p.Trp222Cys
XM_011527975.1:c.786G>C	XP_011526277.1:p.Trp262Cys
XM_011527976.1:c.798G>C	XP_011526278.1:p.Trp266Cys
XM_011527977.1:c.786G>C	XP_011526279.1:p.Trp262Cys
XM_006722741.3:c.786G>C	XP_006722804.2:p.Trp262Cys
XM_011527966.2:c.798G>C	XP_011526268.1:p.Trp266Cys
XM_011527967.2:c.786G>C	XP_011526269.1:p.Trp262Cys
XM_011527968.3:c.798G>C	XP_011526270.1:p.Trp266Cys
XM_011527969.2:c.786G>C	XP_011526271.1:p.Trp262Cys
XM_011527970.2:c.798G>C	XP_011526272.1:p.Trp266Cys
XM_011527971.3:c.798G>C	XP_011526273.1:p.Trp266Cys
XM_011527972.3:c.798G>C	XP_011526274.1:p.Trp266Cys
XM_011527973.2:c.678G>C	XP_011526275.1:p.Trp226Cys
XM_011527974.2:c.666G>C	XP_011526276.1:p.Trp222Cys
XM_011527975.2:c.786G>C	XP_011526277.1:p.Trp262Cys
XM_011527976.2:c.798G>C	XP_011526278.1:p.Trp266Cys
XM_011527977.2:c.786G>C	XP_011526279.1:p.Trp262Cys
XM_017026762.1:c.63G>C	XP_016882251.1:p.Trp21Cys
NM_001290023.2:c.666G>C	NP_001276952.1:p.Trp222Cys
NM_005535.3:c.666G>C MANE Select	NP_005526.1:p.Trp222Cys
NM_153701.3:c.666G>C	NP_714912.1:p.Trp222Cys