Canonical Allele Identifier: CA30725280
Gene: ILF2 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.153668351C>T
GRCh37 chr1:g.153640827C>T
gnomAD v2:
1:153640827 C / T
gnomAD v3:
1:153668351 C / T
gnomAD v4:
chr1-153668351-C-T
Joint Max Group AF 0.31843919 (AFR)
Genomes Max Group AF 0.31260383 (AFR)
Exomes Max Group AF 0.32355448 (AFR)
dbSNP:
7536700
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.153668351C>T , CM000663.2:g.153668351C>T GRCh38
NC_000001.10:g.153640827C>T , CM000663.1:g.153640827C>T GRCh37
NC_000001.9:g.151907451C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000361891.9:c.213+102G>A MANE Select ENSP00000355011.4:n.213+102G>A
ENST00000361891.8:c.213+102G>A ENSP00000355011.4:n.213+102G>A
ENST00000368681.1:c.213+102G>A ENSP00000357670.1:n.213+102G>A
ENST00000368684.8:c.99+102G>A ENSP00000357673.4:n.99+102G>A
ENST00000615950.4:c.99+102G>A ENSP00000482909.1:n.99+102G>A
NM_001267809.1:c.99+102G>A NP_001254738.1:n.99+102G>A
NM_004515.3:c.213+102G>A NP_004506.2:n.213+102G>A
NM_004515.4:c.213+102G>A MANE Select NP_004506.2:n.213+102G>A
NM_001267809.2:c.99+102G>A NP_001254738.1:n.99+102G>A
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