Canonical Allele Identifier: CA1594065
Gene: ALK HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.29225500C>T
GRCh37 chr2:g.29448366C>T
Revel Score:
ENST00000389048 (MANE Select) 0.476
gnomAD v2:
2:29448366 C / T
gnomAD v3:
2:29225500 C / T
gnomAD v4:
chr2-29225500-C-T
Joint Max Group AF 0.00011191 (AFR)
Genomes Max Group AF 0.00011243 (AFR)
Exomes Max Group AF 0.00005849 (AFR)
ClinVar RCV:
RCV000462948
RCV002289587
ClinVar Variation:
404329
dbSNP:
200641396
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.29225500C>T , CM000664.2:g.29225500C>T GRCh38
NC_000002.11:g.29448366C>T , CM000664.1:g.29448366C>T GRCh37
NC_000002.10:g.29301870C>T NCBI36
NG_009445.1:g.701067G>A , LRG_488:g.701067G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000389048.8:c.3133G>A MANE Select ENSP00000373700.3:p.Val1045Met
ENST00000431873.6:c.299G>A
ENST00000389048.7:c.3133G>A ENSP00000373700.3:p.Val1045Met
ENST00000618119.4:c.2002G>A ENSP00000482733.1:p.Val668Met
NM_004304.4:c.3133G>A NP_004295.2:p.Val1045Met
XM_024452778.1:c.286G>A XP_024308546.1:p.Val96Met
XM_024452779.1:c.-1222G>A XP_024308547.1:n.-1222G>A
XR_001738688.2:n.3989G>A
NM_004304.5:c.3133G>A MANE Select NP_004295.2:p.Val1045Met
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