Canonical Allele Identifier: CA404774808

Gene: IL12RB1

Linked Data

• dbSNP Id: rs2146059529
• gnomAD v4: 19-18059908-T-A
• MyVariant Identifiers: chr19:g.18170718T>A (hg19) ; chr19:g.18059908T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.18059908T>A , CM000681.2:g.18059908T>A	GRCh38
NC_000019.9:g.18170718T>A , CM000681.1:g.18170718T>A	GRCh37
NC_000019.8:g.18031718T>A	NCBI36
NG_007366.2:g.44042A>T , LRG_72:g.44042A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593993.7:c.1969A>T MANE Select	ENSP00000472165.2:p.Arg657Trp
ENST00000593993.6:c.1969A>T	ENSP00000472165.2:p.Arg657Trp
ENST00000600835.6:c.1969A>T	ENSP00000470788.1:p.Arg657Trp
NM_001290023.1:c.1969A>T	NP_001276952.1:p.Arg657Ter
NM_001290024.1:c.2089A>T	NP_001276953.1:p.Arg697Trp
NM_005535.2:c.1969A>T	NP_005526.1:p.Arg657Trp
XM_006722741.2:c.2089A>T	XP_006722804.2:p.Arg697Trp
XM_011527966.1:c.2122A>T	XP_011526268.1:p.Arg708Ter
XM_011527967.1:c.2110A>T	XP_011526269.1:p.Arg704Ter
XM_011527968.1:c.2101A>T	XP_011526270.1:p.Arg701Ter
XM_011527969.1:c.2089A>T	XP_011526271.1:p.Arg697Ter
XM_011527970.1:c.2122A>T	XP_011526272.1:p.Arg708Trp
XM_011527971.1:c.2122A>T	XP_011526273.1:p.Arg708Trp
XM_011527972.1:c.2122A>T	XP_011526274.1:p.Arg708Ter
XM_011527973.1:c.2002A>T	XP_011526275.1:p.Arg668Ter
XM_011527974.1:c.1990A>T	XP_011526276.1:p.Arg664Ter
XM_011527975.1:c.2089A>T	XP_011526277.1:p.Arg697Ter
XM_006722741.3:c.2089A>T	XP_006722804.2:p.Arg697Trp
XM_011527966.2:c.2122A>T	XP_011526268.1:p.Arg708Ter
XM_011527967.2:c.2110A>T	XP_011526269.1:p.Arg704Ter
XM_011527968.3:c.2101A>T	XP_011526270.1:p.Arg701Ter
XM_011527969.2:c.2089A>T	XP_011526271.1:p.Arg697Ter
XM_011527970.2:c.2122A>T	XP_011526272.1:p.Arg708Trp
XM_011527971.3:c.2122A>T	XP_011526273.1:p.Arg708Trp
XM_011527972.3:c.2122A>T	XP_011526274.1:p.Arg708Ter
XM_011527973.2:c.2002A>T	XP_011526275.1:p.Arg668Ter
XM_011527974.2:c.1990A>T	XP_011526276.1:p.Arg664Ter
XM_011527975.2:c.2089A>T	XP_011526277.1:p.Arg697Ter
XM_017026762.1:c.1387A>T	XP_016882251.1:p.Arg463Ter
NM_001290023.2:c.1969A>T	NP_001276952.1:p.Arg657Ter
NM_005535.3:c.1969A>T MANE Select	NP_005526.1:p.Arg657Trp