Canonical Allele Identifier: CA323271740
Gene: LIMK2 HGNC NCBI
MyVariant.info:
GRCh38 chr22:g.31267789G>A
GRCh37 chr22:g.31663775G>A
Revel Score:
ENST00000406516 0.603
ENST00000444929 0.603
ENST00000331728 (MANE Select) 0.603
ENST00000436394 0.603
ENST00000333611 0.603
ENST00000340552 0.603
gnomAD v2:
22:31663775 G / A
gnomAD v3:
22:31267789 G / A
gnomAD v4:
chr22-31267789-G-A
Joint Max Group AF 0.00000593 (AMR)
Genomes Max Group AF 0.00000798 (AFR)
Exomes Max Group AF 0.00000816 (AMR)
dbSNP:
2229874
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.31267789G>A , CM000684.2:g.31267789G>A GRCh38
NC_000022.10:g.31663775G>A , CM000684.1:g.31663775G>A GRCh37
NC_000022.9:g.29993775G>A NCBI36
NG_029895.1:g.60526G>A
NG_029895.2:g.60526G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000331728.9:c.1142G>A MANE Select ENSP00000332687.4:p.Arg381His
ENST00000331728.8:c.1142G>A ENSP00000332687.4:p.Arg381His
ENST00000333611.8:c.1079G>A ENSP00000330470.4:p.Arg360His
ENST00000340552.4:c.1079G>A ENSP00000339916.4:p.Arg360His
ENST00000406516.5:c.908G>A ENSP00000384602.1:p.Arg303His
NM_001031801.1:c.1079G>A NP_001026971.1:p.Arg360His
NM_005569.3:c.1142G>A NP_005560.1:p.Arg381His
NM_016733.2:c.1079G>A NP_057952.1:p.Arg360His
NM_005569.4:c.1142G>A MANE Select NP_005560.1:p.Arg381His
NM_001031801.2:c.1079G>A NP_001026971.1:p.Arg360His
NM_016733.3:c.1079G>A NP_057952.1:p.Arg360His
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