Canonical Allele Identifier: CA3538831

Gene: IL12B

Linked Data

• dbSNP Id: rs370644357
• ExAC: 5:158750026 A / G
• gnomAD v2: 5-158750026-A-G
• gnomAD v3: 5-159323018-A-G
• gnomAD v4: 5-159323018-A-G
• MyVariant Identifiers: chr5:g.158750026A>G (hg19) ; chr5:g.159323018A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.159323018A>G , CM000667.2:g.159323018A>G	GRCh38
NC_000005.9:g.158750026A>G , CM000667.1:g.158750026A>G	GRCh37
NC_000005.8:g.158682604A>G	NCBI36
NG_009618.1:g.12456T>C , LRG_71:g.12456T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000696750.1:c.-148-2498T>C	ENSP00000512849.1:n.-148-2498T>C
ENST00000696751.1:c.364+36T>C	ENSP00000512850.1:n.364+36T>C
ENST00000231228.3:c.364+36T>C MANE Select	ENSP00000231228.2:n.364+36T>C
ENST00000231228.2:c.364+36T>C	ENSP00000231228.2:n.364+36T>C
NM_002187.2:c.364+36T>C , LRG_71t1:c.364+36T>C	NP_002178.2:n.364+36T>C
XR_001742945.1:n.147+2422A>G
NM_002187.3:c.364+36T>C MANE Select	NP_002178.2:n.364+36T>C