Canonical Allele Identifier: CA129828494

Gene: IL12B

Linked Data

• dbSNP Id: rs1046770616
• gnomAD v3: 5-159322971-G-A
• gnomAD v4: 5-159322971-G-A
• MyVariant Identifiers: chr5:g.158749979G>A (hg19) ; chr5:g.159322971G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.159322971G>A , CM000667.2:g.159322971G>A	GRCh38
NC_000005.9:g.158749979G>A , CM000667.1:g.158749979G>A	GRCh37
NC_000005.8:g.158682557G>A	NCBI36
NG_009618.1:g.12503C>T , LRG_71:g.12503C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000696750.1:c.-148-2451C>T	ENSP00000512849.1:n.-148-2451C>T
ENST00000696751.1:c.364+83C>T	ENSP00000512850.1:n.364+83C>T
ENST00000231228.3:c.364+83C>T MANE Select	ENSP00000231228.2:n.364+83C>T
ENST00000231228.2:c.364+83C>T	ENSP00000231228.2:n.364+83C>T
NM_002187.2:c.364+83C>T , LRG_71t1:c.364+83C>T	NP_002178.2:n.364+83C>T
XR_001742945.1:n.147+2375G>A
NM_002187.3:c.364+83C>T MANE Select	NP_002178.2:n.364+83C>T