Canonical Allele Identifier: CA156659
Gene: ALK HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.29694994A>G
GRCh37 chr2:g.29917860A>G
Revel Score:
ENST00000389048 (MANE Select) 0.121
gnomAD v2:
2:29917860 A / G
gnomAD v3:
2:29694994 A / G
gnomAD v4:
chr2-29694994-A-G
Joint Max Group AF 0.00009525 (NFE)
Genomes Max Group AF 0.00014678 (NFE)
Exomes Max Group AF 0.00008763 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.29694994A>G , CM000664.2:g.29694994A>G GRCh38
NC_000002.11:g.29917860A>G , CM000664.1:g.29917860A>G GRCh37
NC_000002.10:g.29771364A>G NCBI36
NG_009445.1:g.231573T>C , LRG_488:g.231573T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000389048.8:c.808T>C MANE Select ENSP00000373700.3:p.Phe270Leu
ENST00000389048.7:c.808T>C ENSP00000373700.3:p.Phe270Leu
ENST00000618119.4:c.-324T>C ENSP00000482733.1:n.-324T>C
NM_004304.4:c.808T>C NP_004295.2:p.Phe270Leu
XR_001738688.2:n.1738T>C
NM_004304.5:c.808T>C MANE Select NP_004295.2:p.Phe270Leu
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