Canonical Allele Identifier: CA564025481

Gene: IL12B

Linked Data

• dbSNP Id: rs1213505734
• gnomAD v2: 5-158755769-A-G
• gnomAD v3: 5-159328761-A-G
• gnomAD v4: 5-159328761-A-G
• MyVariant Identifiers: chr5:g.158755769A>G (hg19) ; chr5:g.159328761A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.159328761A>G , CM000667.2:g.159328761A>G	GRCh38
NC_000005.9:g.158755769A>G , CM000667.1:g.158755769A>G	GRCh37
NC_000005.8:g.158688347A>G	NCBI36
NG_009618.1:g.6713T>C , LRG_71:g.6713T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696750.1:c.-149+1671T>C	ENSP00000512849.1:n.-149+1671T>C
ENST00000696751.1:c.-1+1671T>C	ENSP00000512850.1:n.-1+1671T>C
ENST00000696752.1:n.432+1671T>C
ENST00000231228.3:c.-1+1671T>C MANE Select	ENSP00000231228.2:n.-1+1671T>C
ENST00000231228.2:c.-1+1671T>C	ENSP00000231228.2:n.-1+1671T>C
NM_002187.2:c.-1+1671T>C , LRG_71t1:c.-1+1671T>C	NP_002178.2:n.-1+1671T>C
NM_002187.3:c.-1+1671T>C MANE Select	NP_002178.2:n.-1+1671T>C