Canonical Allele Identifier: CA342585
Gene: ALK HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.29209873A>G
GRCh37 chr2:g.29432739A>G
Revel Score:
ENST00000389048 (MANE Select) 0.946
gnomAD v2:
2:29432739 A / G
gnomAD v3:
2:29209873 A / G
gnomAD v4:
chr2-29209873-A-G
Joint Max Group AF 7.9e-7 (NFE)
Exomes Max Group AF 7.2e-7 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.29209873A>G , CM000664.2:g.29209873A>G GRCh38
NC_000002.11:g.29432739A>G , CM000664.1:g.29432739A>G GRCh37
NC_000002.10:g.29286243A>G NCBI36
NG_009445.1:g.716694T>C , LRG_488:g.716694T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000389048.8:c.3749T>C MANE Select ENSP00000373700.3:p.Ile1250Thr
ENST00000431873.6:c.976T>C
ENST00000638605.1:n.626T>C
ENST00000642122.1:c.545T>C ENSP00000493203.1:p.Ile182Thr
ENST00000389048.7:c.3749T>C ENSP00000373700.3:p.Ile1250Thr
ENST00000431873.5:c.629T>C ENSP00000414027.2:p.Ile210Thr
ENST00000618119.4:c.2618T>C ENSP00000482733.1:p.Ile873Thr
NM_004304.4:c.3749T>C NP_004295.2:p.Ile1250Thr
NM_001353765.1:c.545T>C NP_001340694.1:p.Ile182Thr
XM_024452778.1:c.902T>C XP_024308546.1:p.Ile301Thr
XM_024452779.1:c.545T>C XP_024308547.1:p.Ile182Thr
NM_004304.5:c.3749T>C MANE Select NP_004295.2:p.Ile1250Thr
NM_001353765.2:c.545T>C NP_001340694.1:p.Ile182Thr
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