Canonical Allele Identifier: CA1593974
Gene: ALK HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.29222605C>T
GRCh37 chr2:g.29445471C>T
Revel Score:
ENST00000389048 (MANE Select) 0.569
ENST00000453137 0.569
gnomAD v2:
2:29445471 C / T
gnomAD v3:
2:29222605 C / T
gnomAD v4:
chr2-29222605-C-T
Joint Max Group AF 0.00025868 (NFE)
Genomes Max Group AF 0.00013497 (NFE)
Exomes Max Group AF 0.00026186 (NFE)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.29222605C>T , CM000664.2:g.29222605C>T GRCh38
NC_000002.11:g.29445471C>T , CM000664.1:g.29445471C>T GRCh37
NC_000002.10:g.29298975C>T NCBI36
NG_009445.1:g.703962G>A , LRG_488:g.703962G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000389048.8:c.3362G>A MANE Select ENSP00000373700.3:p.Gly1121Asp
ENST00000431873.6:c.589G>A
ENST00000638605.1:n.239G>A
ENST00000642122.1:c.158G>A ENSP00000493203.1:p.Gly53Asp
ENST00000389048.7:c.3362G>A ENSP00000373700.3:p.Gly1121Asp
ENST00000431873.5:c.242G>A ENSP00000414027.2:p.Gly81Asp
ENST00000453137.1:c.56G>A ENSP00000387488.1:p.Gly19Asp
ENST00000618119.4:c.2231G>A ENSP00000482733.1:p.Gly744Asp
NM_004304.4:c.3362G>A NP_004295.2:p.Gly1121Asp
NM_001353765.1:c.158G>A NP_001340694.1:p.Gly53Asp
XM_024452778.1:c.515G>A XP_024308546.1:p.Gly172Asp
XM_024452779.1:c.158G>A XP_024308547.1:p.Gly53Asp
NM_004304.5:c.3362G>A MANE Select NP_004295.2:p.Gly1121Asp
NM_001353765.2:c.158G>A NP_001340694.1:p.Gly53Asp
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