Canonical Allele Identifier: CA1594770
Gene: ALK HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.29532002T>C
GRCh37 chr2:g.29754868T>C
Revel Score:
ENST00000389048 (MANE Select) 0.176
gnomAD v2:
2:29754868 T / C
gnomAD v3:
2:29532002 T / C
gnomAD v4:
chr2-29532002-T-C
Joint Max Group AF 0.00011524 (AMR)
Exomes Max Group AF 0.0001374 (AMR)
ClinVar RCV:
RCV000230394
RCV002411042
ClinVar Variation:
239792
dbSNP:
773367495
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.29532002T>C , CM000664.2:g.29532002T>C GRCh38
NC_000002.11:g.29754868T>C , CM000664.1:g.29754868T>C GRCh37
NC_000002.10:g.29608372T>C NCBI36
NG_009445.1:g.394565A>G , LRG_488:g.394565A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000389048.8:c.1067A>G MANE Select ENSP00000373700.3:p.Gln356Arg
ENST00000389048.7:c.1067A>G ENSP00000373700.3:p.Gln356Arg
ENST00000618119.4:c.-65A>G ENSP00000482733.1:n.-65A>G
NM_004304.4:c.1067A>G NP_004295.2:p.Gln356Arg
XR_001738688.2:n.1997A>G
NM_004304.5:c.1067A>G MANE Select NP_004295.2:p.Gln356Arg
Search 100 bp 5'
Search 100 bp 3'