Canonical Allele Identifier: CA16602812
Gene: BCL2L12 HGNC NCBI
IRF3 HGNC NCBI

Linked Data

ClinVar Variation Id: 376373
dbSNP Id: rs1057519880

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.49665875C>T , CM000681.2:g.49665875C>T GRCh38
NC_000019.9:g.50169132C>T , CM000681.1:g.50169132C>T GRCh37
NC_000019.8:g.54860944C>T NCBI36
NG_031810.1:g.5001G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000698553.1:c.-818C>T (BCL2L12) ENSP00000513795.1:n.-818C>T
ENST00000698554.1:c.-818C>T (BCL2L12) ENSP00000513796.1:n.-818C>T
ENST00000698555.1:c.-818C>T (BCL2L12) ENSP00000513797.1:n.-818C>T
ENST00000698556.1:c.-818C>T (BCL2L12) ENSP00000513798.1:n.-818C>T
ENST00000698557.1:c.-818C>T (BCL2L12) ENSP00000513799.1:n.-818C>T
ENST00000698558.1:c.-818C>T (BCL2L12) ENSP00000513800.1:n.-818C>T
ENST00000698559.1:c.-818C>T (BCL2L12) ENSP00000513801.1:n.-818C>T
ENST00000698560.1:c.-818C>T (BCL2L12) ENSP00000513802.1:n.-818C>T
ENST00000698561.1:c.-818C>T (BCL2L12) ENSP00000513803.1:n.-818C>T
ENST00000246785.7:c.52C>T (BCL2L12) ENSP00000246785.2:p.Arg18Trp
ENST00000377135.8:c.-518G>A (IRF3) ENSP00000366339.5:n.-518G>A
ENST00000377139.7:c.-253G>A (IRF3) ENSP00000366344.3:n.-253G>A
ENST00000441864.6:c.52C>T (BCL2L12) ENSP00000393803.1:p.Arg18Trp
ENST00000611631.4:c.52C>T (BCL2L12) ENSP00000478415.1:p.Arg18Trp
ENST00000614495.4:c.52C>T (BCL2L12) ENSP00000482154.1:p.Arg18Trp
ENST00000616144.4:c.52C>T (BCL2L12) ENSP00000482218.1:p.Arg18Trp
ENST00000619007.4:c.52C>T (BCL2L12) ENSP00000483272.1:p.Arg18Trp
NM_001040668.1:c.52C>T (BCL2L12) NP_001035758.1:p.Arg18Trp
NM_001197122.1:c.-253G>A (IRF3) NP_001184051.1:n.-253G>A
NM_001197123.1:c.-416G>A (IRF3) NP_001184052.1:n.-416G>A
NM_001197124.1:c.-253G>A (IRF3) NP_001184053.1:n.-253G>A
NM_001197125.1:c.-518G>A (IRF3) NP_001184054.1:n.-518G>A
NM_001197126.1:c.-346G>A (IRF3) NP_001184055.1:n.-346G>A
NM_001197127.1:c.-518G>A (IRF3) NP_001184056.1:n.-518G>A
NM_001197128.1:c.-346G>A (IRF3) NP_001184057.1:n.-346G>A
NM_001282516.1:c.52C>T (BCL2L12) NP_001269445.1:p.Arg18Trp
NM_001282517.1:c.52C>T (BCL2L12) NP_001269446.1:p.Arg18Trp
NM_001282519.1:c.52C>T (BCL2L12) NP_001269448.1:p.Arg18Trp
NM_001282520.1:c.52C>T (BCL2L12) NP_001269449.1:p.Arg18Trp
NM_001282521.1:c.52C>T (BCL2L12) NP_001269450.1:p.Arg18Trp
NM_001571.5:c.-253G>A (IRF3) NP_001562.1:n.-253G>A
NM_138639.1:c.52C>T (BCL2L12) NP_619580.1:p.Arg18Trp
NR_045568.1:n.1G>A (IRF3)
NR_104200.1:n.734C>T (BCL2L12)
NR_104201.1:n.734C>T (BCL2L12)
NR_104202.1:n.734C>T (BCL2L12)
NR_104203.1:n.734C>T (BCL2L12)
NR_104204.1:n.734C>T (BCL2L12)
NR_104205.1:n.734C>T (BCL2L12)
XM_017027345.2:c.52C>T (BCL2L12) XP_016882834.1:p.Arg18Trp
XM_017027346.2:c.52C>T (BCL2L12) XP_016882835.1:p.Arg18Trp