Canonical Allele Identifier: CA1594004
Gene: ALK HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.29223363C>T
GRCh37 chr2:g.29446229C>T
Revel Score:
ENST00000389048 (MANE Select) 0.748
ENST00000453137 0.748
gnomAD v2:
2:29446229 C / T
gnomAD v3:
2:29223363 C / T
gnomAD v4:
chr2-29223363-C-T
Joint Max Group AF 0.00001144 (NFE)
Genomes Max Group AF 0.00000488 (NFE)
Exomes Max Group AF 0.00001093 (NFE)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.29223363C>T , CM000664.2:g.29223363C>T GRCh38
NC_000002.11:g.29446229C>T , CM000664.1:g.29446229C>T GRCh37
NC_000002.10:g.29299733C>T NCBI36
NG_009445.1:g.703204G>A , LRG_488:g.703204G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000389048.8:c.3338G>A MANE Select ENSP00000373700.3:p.Arg1113Gln
ENST00000431873.6:c.565G>A
ENST00000638605.1:n.215G>A
ENST00000642122.1:c.134G>A ENSP00000493203.1:p.Arg45Gln
ENST00000389048.7:c.3338G>A ENSP00000373700.3:p.Arg1113Gln
ENST00000431873.5:c.218G>A ENSP00000414027.2:p.Arg73Gln
ENST00000453137.1:c.32G>A ENSP00000387488.1:p.Arg11Gln
ENST00000618119.4:c.2207G>A ENSP00000482733.1:p.Arg736Gln
NM_004304.4:c.3338G>A NP_004295.2:p.Arg1113Gln
NM_001353765.1:c.134G>A NP_001340694.1:p.Arg45Gln
XM_024452778.1:c.491G>A XP_024308546.1:p.Arg164Gln
XM_024452779.1:c.134G>A XP_024308547.1:p.Arg45Gln
NM_004304.5:c.3338G>A MANE Select NP_004295.2:p.Arg1113Gln
NM_001353765.2:c.134G>A NP_001340694.1:p.Arg45Gln
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