Canonical Allele Identifier: CA346590433
Gene: ALK HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.29920427G>C
GRCh37 chr2:g.30143293G>C
Revel Score:
ENST00000389048 (MANE Select) 0.058
ENST00000431873 0.058
gnomAD v2:
2:30143293 G / C
gnomAD v4:
chr2-29920427-G-C
Joint Max Group AF 0.00004388 (EAS)
Exomes Max Group AF 0.00004959 (EAS)
ClinVar RCV:
RCV000555107
ClinVar Variation:
470790
dbSNP:
748978993
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.29920427G>C , CM000664.2:g.29920427G>C GRCh38
NC_000002.11:g.30143293G>C , CM000664.1:g.30143293G>C GRCh37
NC_000002.10:g.29996797G>C NCBI36
NG_009445.1:g.6140C>G , LRG_488:g.6140C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000389048.8:c.233C>G MANE Select ENSP00000373700.3:p.Ser78Trp
ENST00000389048.7:c.233C>G ENSP00000373700.3:p.Ser78Trp
NM_004304.4:c.233C>G NP_004295.2:p.Ser78Trp
XR_001738688.2:n.1163C>G
NM_004304.5:c.233C>G MANE Select NP_004295.2:p.Ser78Trp
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