Canonical Allele Identifier: CA1594482
Gene: ALK HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.29275222C>T
GRCh37 chr2:g.29498088C>T
Revel Score:
ENST00000389048 (MANE Select) 0.462
gnomAD v2:
2:29498088 C / T
gnomAD v3:
2:29275222 C / T
gnomAD v4:
chr2-29275222-C-T
Joint Max Group AF 0.00019843 (AFR)
Genomes Max Group AF 0.00018493 (AFR)
Exomes Max Group AF 0.00013982 (AFR)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.29275222C>T , CM000664.2:g.29275222C>T GRCh38
NC_000002.11:g.29498088C>T , CM000664.1:g.29498088C>T GRCh37
NC_000002.10:g.29351592C>T NCBI36
NG_009445.1:g.651345G>A , LRG_488:g.651345G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000389048.8:c.1918G>A MANE Select ENSP00000373700.3:p.Gly640Arg
ENST00000389048.7:c.1918G>A ENSP00000373700.3:p.Gly640Arg
ENST00000618119.4:c.787G>A ENSP00000482733.1:p.Gly263Arg
NM_004304.4:c.1918G>A NP_004295.2:p.Gly640Arg
XR_001738688.2:n.2848G>A
NM_004304.5:c.1918G>A MANE Select NP_004295.2:p.Gly640Arg
Search 100 bp 5'
Search 100 bp 3'