Canonical Allele Identifier: CA404774960

Gene: IL12RB1

Linked Data

• gnomAD v4: 19-18059938-C-T
• COSMIC: COSM3378658 ; COSM3378659
• MyVariant Identifiers: chr19:g.18170748C>T (hg19) ; chr19:g.18059938C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.18059938C>T , CM000681.2:g.18059938C>T	GRCh38
NC_000019.9:g.18170748C>T , CM000681.1:g.18170748C>T	GRCh37
NC_000019.8:g.18031748C>T	NCBI36
NG_007366.2:g.44012G>A , LRG_72:g.44012G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593993.7:c.1939G>A MANE Select	ENSP00000472165.2:p.Asp647Asn
ENST00000593993.6:c.1939G>A	ENSP00000472165.2:p.Asp647Asn
ENST00000600835.6:c.1939G>A	ENSP00000470788.1:p.Asp647Asn
NM_001290023.1:c.1939G>A	NP_001276952.1:p.Asp647Asn
NM_001290024.1:c.2059G>A	NP_001276953.1:p.Asp687Asn
NM_005535.2:c.1939G>A	NP_005526.1:p.Asp647Asn
XM_006722741.2:c.2059G>A	XP_006722804.2:p.Asp687Asn
XM_011527966.1:c.2092G>A	XP_011526268.1:p.Asp698Asn
XM_011527967.1:c.2080G>A	XP_011526269.1:p.Asp694Asn
XM_011527968.1:c.2071G>A	XP_011526270.1:p.Asp691Asn
XM_011527969.1:c.2059G>A	XP_011526271.1:p.Asp687Asn
XM_011527970.1:c.2092G>A	XP_011526272.1:p.Asp698Asn
XM_011527971.1:c.2092G>A	XP_011526273.1:p.Asp698Asn
XM_011527972.1:c.2092G>A	XP_011526274.1:p.Asp698Asn
XM_011527973.1:c.1972G>A	XP_011526275.1:p.Asp658Asn
XM_011527974.1:c.1960G>A	XP_011526276.1:p.Asp654Asn
XM_011527975.1:c.2059G>A	XP_011526277.1:p.Asp687Asn
XM_006722741.3:c.2059G>A	XP_006722804.2:p.Asp687Asn
XM_011527966.2:c.2092G>A	XP_011526268.1:p.Asp698Asn
XM_011527967.2:c.2080G>A	XP_011526269.1:p.Asp694Asn
XM_011527968.3:c.2071G>A	XP_011526270.1:p.Asp691Asn
XM_011527969.2:c.2059G>A	XP_011526271.1:p.Asp687Asn
XM_011527970.2:c.2092G>A	XP_011526272.1:p.Asp698Asn
XM_011527971.3:c.2092G>A	XP_011526273.1:p.Asp698Asn
XM_011527972.3:c.2092G>A	XP_011526274.1:p.Asp698Asn
XM_011527973.2:c.1972G>A	XP_011526275.1:p.Asp658Asn
XM_011527974.2:c.1960G>A	XP_011526276.1:p.Asp654Asn
XM_011527975.2:c.2059G>A	XP_011526277.1:p.Asp687Asn
XM_017026762.1:c.1357G>A	XP_016882251.1:p.Asp453Asn
NM_001290023.2:c.1939G>A	NP_001276952.1:p.Asp647Asn
NM_005535.3:c.1939G>A MANE Select	NP_005526.1:p.Asp647Asn