Canonical Allele Identifier: CA994181350

Gene: IL12RB1

Linked Data

• dbSNP Id: rs2034867152
• gnomAD v3: 19-18069621-G-GC
• gnomAD v4: 19-18069621-G-GC

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.18069623dup , CM000681.2:g.18069623dup	GRCh38
NC_000019.9:g.18180433dup , CM000681.1:g.18180433dup	GRCh37
NC_000019.8:g.18041433dup	NCBI36
NG_007366.2:g.34328dup , LRG_72:g.34328dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593993.7:c.1113dup MANE Select	ENSP00000472165.2:p.Gln372AlafsTer?
ENST00000593993.6:c.1113dup	ENSP00000472165.2:p.Gln372AlafsTer?
ENST00000600835.6:c.1113dup	ENSP00000470788.1:p.Gln372AlafsTer?
NM_001290023.1:c.1113dup	NP_001276952.1:p.Gln372AlafsTer?
NM_001290024.1:c.1233dup	NP_001276953.1:p.Gln412AlafsTer?
NM_005535.2:c.1113dup	NP_005526.1:p.Gln372AlafsTer?
XM_006722741.2:c.1233dup	XP_006722804.2:p.Gln412AlafsTer?
XM_011527966.1:c.1266dup	XP_011526268.1:p.Gln423AlafsTer?
XM_011527967.1:c.1254dup	XP_011526269.1:p.Gln419AlafsTer?
XM_011527968.1:c.1245dup	XP_011526270.1:p.Gln416AlafsTer?
XM_011527969.1:c.1233dup	XP_011526271.1:p.Gln412AlafsTer?
XM_011527970.1:c.1266dup	XP_011526272.1:p.Gln423AlafsTer?
XM_011527971.1:c.1266dup	XP_011526273.1:p.Gln423AlafsTer?
XM_011527972.1:c.1266dup	XP_011526274.1:p.Gln423AlafsTer?
XM_011527973.1:c.1146dup	XP_011526275.1:p.Gln383AlafsTer?
XM_011527974.1:c.1134dup	XP_011526276.1:p.Gln379AlafsTer?
XM_011527975.1:c.1233dup	XP_011526277.1:p.Gln412AlafsTer?
XM_011527976.1:c.1266dup	XP_011526278.1:p.Gln423AlafsTer?
XM_006722741.3:c.1233dup	XP_006722804.2:p.Gln412AlafsTer?
XM_011527966.2:c.1266dup	XP_011526268.1:p.Gln423AlafsTer?
XM_011527967.2:c.1254dup	XP_011526269.1:p.Gln419AlafsTer?
XM_011527968.3:c.1245dup	XP_011526270.1:p.Gln416AlafsTer?
XM_011527969.2:c.1233dup	XP_011526271.1:p.Gln412AlafsTer?
XM_011527970.2:c.1266dup	XP_011526272.1:p.Gln423AlafsTer?
XM_011527971.3:c.1266dup	XP_011526273.1:p.Gln423AlafsTer?
XM_011527972.3:c.1266dup	XP_011526274.1:p.Gln423AlafsTer?
XM_011527973.2:c.1146dup	XP_011526275.1:p.Gln383AlafsTer?
XM_011527974.2:c.1134dup	XP_011526276.1:p.Gln379AlafsTer?
XM_011527975.2:c.1233dup	XP_011526277.1:p.Gln412AlafsTer?
XM_011527976.2:c.1266dup	XP_011526278.1:p.Gln423AlafsTer?
XM_017026762.1:c.531dup	XP_016882251.1:p.Gln178AlafsTer?
NM_001290023.2:c.1113dup	NP_001276952.1:p.Gln372AlafsTer?
NM_005535.3:c.1113dup MANE Select	NP_005526.1:p.Gln372AlafsTer?