Canonical Allele Identifier: CA3538883

Gene: IL12B

Linked Data

• ClinVar Variation Id: 2909912
• ClinVar RCV Id: RCV003749068
• dbSNP Id: rs779788217
• ExAC: 5:158750330 G / A
• gnomAD v2: 5-158750330-G-A
• gnomAD v3: 5-159323322-G-A
• gnomAD v4: 5-159323322-G-A
• COSMIC: COSM3919516 ; COSM3919517
• MyVariant Identifiers: chr5:g.158750330G>A (hg19) ; chr5:g.159323322G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.159323322G>A , CM000667.2:g.159323322G>A	GRCh38
NC_000005.9:g.158750330G>A , CM000667.1:g.158750330G>A	GRCh37
NC_000005.8:g.158682908G>A	NCBI36
NG_009618.1:g.12152C>T , LRG_71:g.12152C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696750.1:c.-148-2802C>T	ENSP00000512849.1:n.-148-2802C>T
ENST00000696751.1:c.96C>T	ENSP00000512850.1:p.Val32=
ENST00000231228.3:c.96C>T MANE Select	ENSP00000231228.2:p.Val32=
ENST00000231228.2:c.96C>T	ENSP00000231228.2:p.Val32=
NM_002187.2:c.96C>T , LRG_71t1:c.96C>T	NP_002178.2:p.Val32=
XR_001742945.1:n.148-2212G>A
NM_002187.3:c.96C>T MANE Select	NP_002178.2:p.Val32=