Canonical Allele Identifier: CA1594997
Gene: ALK HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.29920310G>C
GRCh37 chr2:g.30143176G>C
Revel Score:
ENST00000389048 (MANE Select) 0.064
ENST00000431873 0.064
gnomAD v2:
2:30143176 G / C
gnomAD v3:
2:29920310 G / C
gnomAD v4:
chr2-29920310-G-C
Joint Max Group AF 0.00022828 (NFE)
Genomes Max Group AF 0.00009047 (NFE)
Exomes Max Group AF 0.00023237 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.29920310G>C , CM000664.2:g.29920310G>C GRCh38
NC_000002.11:g.30143176G>C , CM000664.1:g.30143176G>C GRCh37
NC_000002.10:g.29996680G>C NCBI36
NG_009445.1:g.6257C>G , LRG_488:g.6257C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000389048.8:c.350C>G MANE Select ENSP00000373700.3:p.Pro117Arg
ENST00000389048.7:c.350C>G ENSP00000373700.3:p.Pro117Arg
NM_004304.4:c.350C>G NP_004295.2:p.Pro117Arg
XR_001738688.2:n.1280C>G
NM_004304.5:c.350C>G MANE Select NP_004295.2:p.Pro117Arg
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