Canonical Allele Identifier: CA1593836
Gene: ALK HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.29220706C>T
GRCh37 chr2:g.29443572C>T
gnomAD v2:
2:29443572 C / T
gnomAD v3:
2:29220706 C / T
gnomAD v4:
chr2-29220706-C-T
Joint Max Group AF 0.00004537 (NFE)
Genomes Max Group AF 0.00002848 (NFE)
Exomes Max Group AF 0.00004439 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.29220706C>T , CM000664.2:g.29220706C>T GRCh38
NC_000002.11:g.29443572C>T , CM000664.1:g.29443572C>T GRCh37
NC_000002.10:g.29297076C>T NCBI36
NG_009445.1:g.705861G>A , LRG_488:g.705861G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000389048.8:c.3645G>A MANE Select ENSP00000373700.3:p.Pro1215=
ENST00000431873.6:c.872G>A
ENST00000638605.1:n.522G>A
ENST00000642122.1:c.441G>A ENSP00000493203.1:p.Pro147=
ENST00000389048.7:c.3645G>A ENSP00000373700.3:p.Pro1215=
ENST00000431873.5:c.525G>A ENSP00000414027.2:p.Pro175=
ENST00000618119.4:c.2514G>A ENSP00000482733.1:p.Pro838=
NM_004304.4:c.3645G>A NP_004295.2:p.Pro1215=
NM_001353765.1:c.441G>A NP_001340694.1:p.Pro147=
XM_024452778.1:c.798G>A XP_024308546.1:p.Pro266=
XM_024452779.1:c.441G>A XP_024308547.1:p.Pro147=
NM_004304.5:c.3645G>A MANE Select NP_004295.2:p.Pro1215=
NM_001353765.2:c.441G>A NP_001340694.1:p.Pro147=
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