Canonical Allele Identifier: CA632136866

Gene: IL12RB1

Linked Data

• dbSNP Id: rs1273136523
• gnomAD v2: 19-18180598-C-CCT
• gnomAD v3: 19-18069788-C-CCT
• gnomAD v4: 19-18069788-C-CCT
• MyVariant Identifiers: chr19:g.18180598_18180599insCT (hg19) ; chr19:g.18069788_18069789insCT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.18069794_18069795dup , CM000681.2:g.18069794_18069795dup	GRCh38
NC_000019.9:g.18180604_18180605dup , CM000681.1:g.18180604_18180605dup	GRCh37
NC_000019.8:g.18041604_18041605dup	NCBI36
NG_007366.2:g.34160_34161dup , LRG_72:g.34160_34161dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593993.7:c.1022-77_1022-76dup MANE Select	ENSP00000472165.2:n.1022-77_1022-76dup
ENST00000593993.6:c.1022-77_1022-76dup	ENSP00000472165.2:n.1022-77_1022-76dup
ENST00000600835.6:c.1022-77_1022-76dup	ENSP00000470788.1:n.1022-77_1022-76dup
NM_001290023.1:c.1022-77_1022-76dup	NP_001276952.1:n.1022-77_1022-76dup
NM_001290024.1:c.1142-77_1142-76dup	NP_001276953.1:n.1142-77_1142-76dup
NM_005535.2:c.1022-77_1022-76dup	NP_005526.1:n.1022-77_1022-76dup
XM_006722741.2:c.1142-77_1142-76dup	XP_006722804.2:n.1142-77_1142-76dup
XM_011527966.1:c.1175-77_1175-76dup	XP_011526268.1:n.1175-77_1175-76dup
XM_011527967.1:c.1163-77_1163-76dup	XP_011526269.1:n.1163-77_1163-76dup
XM_011527968.1:c.1154-77_1154-76dup	XP_011526270.1:n.1154-77_1154-76dup
XM_011527969.1:c.1142-77_1142-76dup	XP_011526271.1:n.1142-77_1142-76dup
XM_011527970.1:c.1175-77_1175-76dup	XP_011526272.1:n.1175-77_1175-76dup
XM_011527971.1:c.1175-77_1175-76dup	XP_011526273.1:n.1175-77_1175-76dup
XM_011527972.1:c.1175-77_1175-76dup	XP_011526274.1:n.1175-77_1175-76dup
XM_011527973.1:c.1055-77_1055-76dup	XP_011526275.1:n.1055-77_1055-76dup
XM_011527974.1:c.1043-77_1043-76dup	XP_011526276.1:n.1043-77_1043-76dup
XM_011527975.1:c.1142-77_1142-76dup	XP_011526277.1:n.1142-77_1142-76dup
XM_011527976.1:c.1175-77_1175-76dup	XP_011526278.1:n.1175-77_1175-76dup
XM_006722741.3:c.1142-77_1142-76dup	XP_006722804.2:n.1142-77_1142-76dup
XM_011527966.2:c.1175-77_1175-76dup	XP_011526268.1:n.1175-77_1175-76dup
XM_011527967.2:c.1163-77_1163-76dup	XP_011526269.1:n.1163-77_1163-76dup
XM_011527968.3:c.1154-77_1154-76dup	XP_011526270.1:n.1154-77_1154-76dup
XM_011527969.2:c.1142-77_1142-76dup	XP_011526271.1:n.1142-77_1142-76dup
XM_011527970.2:c.1175-77_1175-76dup	XP_011526272.1:n.1175-77_1175-76dup
XM_011527971.3:c.1175-77_1175-76dup	XP_011526273.1:n.1175-77_1175-76dup
XM_011527972.3:c.1175-77_1175-76dup	XP_011526274.1:n.1175-77_1175-76dup
XM_011527973.2:c.1055-77_1055-76dup	XP_011526275.1:n.1055-77_1055-76dup
XM_011527974.2:c.1043-77_1043-76dup	XP_011526276.1:n.1043-77_1043-76dup
XM_011527975.2:c.1142-77_1142-76dup	XP_011526277.1:n.1142-77_1142-76dup
XM_011527976.2:c.1175-77_1175-76dup	XP_011526278.1:n.1175-77_1175-76dup
XM_017026762.1:c.440-77_440-76dup	XP_016882251.1:n.440-77_440-76dup
NM_001290023.2:c.1022-77_1022-76dup	NP_001276952.1:n.1022-77_1022-76dup
NM_005535.3:c.1022-77_1022-76dup MANE Select	NP_005526.1:n.1022-77_1022-76dup