Canonical Allele Identifier: CA3538731

Gene: IL12B

Linked Data

• ClinVar Variation Id: 570949
• ClinVar RCV Id: RCV000691948
• dbSNP Id: rs776726308
• ExAC: 5:158745896 G / A
• gnomAD v2: 5-158745896-G-A
• gnomAD v3: 5-159318888-G-A
• gnomAD v4: 5-159318888-G-A
• MyVariant Identifiers: chr5:g.158745896G>A (hg19) ; chr5:g.159318888G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.159318888G>A , CM000667.2:g.159318888G>A	GRCh38
NC_000005.9:g.158745896G>A , CM000667.1:g.158745896G>A	GRCh37
NC_000005.8:g.158678474G>A	NCBI36
NG_009618.1:g.16586C>T , LRG_71:g.16586C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696750.1:c.73C>T	ENSP00000512849.1:p.Pro25Ser
ENST00000696751.1:c.*198C>T	ENSP00000512850.1:n.*198C>T
ENST00000231228.3:c.703C>T MANE Select	ENSP00000231228.2:p.Pro235Ser
ENST00000231228.2:c.703C>T	ENSP00000231228.2:p.Pro235Ser
NM_002187.2:c.703C>T , LRG_71t1:c.703C>T	NP_002178.2:p.Pro235Ser
NM_002187.3:c.703C>T MANE Select	NP_002178.2:p.Pro235Ser