Canonical Allele Identifier: CA1594061
Gene: ALK HGNC NCBI
COSMIC:
COSM5004240 (not active)
MyVariant.info:
GRCh38 chr2:g.29225473C>T
GRCh37 chr2:g.29448339C>T
Revel Score:
ENST00000389048 (MANE Select) 0.444
gnomAD v2:
2:29448339 C / T
gnomAD v3:
2:29225473 C / T
gnomAD v4:
chr2-29225473-C-T
Joint Max Group AF 0.00012286 (AFR)
Genomes Max Group AF 0.00009569 (AFR)
Exomes Max Group AF 0.00009751 (AFR)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.29225473C>T , CM000664.2:g.29225473C>T GRCh38
NC_000002.11:g.29448339C>T , CM000664.1:g.29448339C>T GRCh37
NC_000002.10:g.29301843C>T NCBI36
NG_009445.1:g.701094G>A , LRG_488:g.701094G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000389048.8:c.3160G>A MANE Select ENSP00000373700.3:p.Gly1054Ser
ENST00000431873.6:c.326G>A
ENST00000389048.7:c.3160G>A ENSP00000373700.3:p.Gly1054Ser
ENST00000618119.4:c.2029G>A ENSP00000482733.1:p.Gly677Ser
NM_004304.4:c.3160G>A NP_004295.2:p.Gly1054Ser
XM_024452778.1:c.313G>A XP_024308546.1:p.Gly105Ser
XM_024452779.1:c.-1195G>A XP_024308547.1:n.-1195G>A
XR_001738688.2:n.4016G>A
NM_004304.5:c.3160G>A MANE Select NP_004295.2:p.Gly1054Ser
Search 100 bp 5'
Search 100 bp 3'