Canonical Allele Identifier: CA1139659219

Gene: IL12B

Linked Data

• ClinVar Variation Id: 906440
• ClinVar RCV Id: RCV001155617
• dbSNP Id: rs1173400885

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.159315065G>A , CM000667.2:g.159315065G>A	GRCh38
NC_000005.9:g.158742073G>A , CM000667.1:g.158742073G>A	GRCh37
NC_000005.8:g.158674651G>A	NCBI36
NG_009618.1:g.20409C>T , LRG_71:g.20409C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696750.1:c.*1036C>T	ENSP00000512849.1:n.*1036C>T
ENST00000696751.1:c.*1518C>T	ENSP00000512850.1:n.*1518C>T
ENST00000231228.3:c.*1036C>T MANE Select	ENSP00000231228.2:n.*1036C>T
ENST00000231228.2:c.*1036C>T	ENSP00000231228.2:n.*1036C>T
NM_002187.2:c.*1036C>T , LRG_71t1:c.*1036C>T	NP_002178.2:n.*1036C>T
XR_941138.1:n.364-153G>A
XR_941138.2:n.431-153G>A
NM_002187.3:c.*1036C>T MANE Select	NP_002178.2:n.*1036C>T