Canonical Allele Identifier: CA1594108
Gene: ALK HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.29226934C>T
GRCh37 chr2:g.29449800C>T
Revel Score:
ENST00000389048 (MANE Select) 0.297
gnomAD v2:
2:29449800 C / T
gnomAD v3:
2:29226934 C / T
gnomAD v4:
chr2-29226934-C-T
Joint Max Group AF 0.00005433 (AMR)
Genomes Max Group AF 0.000008 (AFR)
Exomes Max Group AF 0.00005804 (AMR)
ClinVar RCV:
RCV000546699
ClinVar Variation:
470814
dbSNP:
76742576
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.29226934C>T , CM000664.2:g.29226934C>T GRCh38
NC_000002.11:g.29449800C>T , CM000664.1:g.29449800C>T GRCh37
NC_000002.10:g.29303304C>T NCBI36
NG_009445.1:g.699633G>A , LRG_488:g.699633G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000389048.8:c.3055G>A MANE Select ENSP00000373700.3:p.Val1019Ile
ENST00000431873.6:c.221G>A
ENST00000389048.7:c.3055G>A ENSP00000373700.3:p.Val1019Ile
ENST00000618119.4:c.1924G>A ENSP00000482733.1:p.Val642Ile
NM_004304.4:c.3055G>A NP_004295.2:p.Val1019Ile
XM_024452778.1:c.208G>A XP_024308546.1:p.Val70Ile
XR_001738688.2:n.3911G>A
NM_004304.5:c.3055G>A MANE Select NP_004295.2:p.Val1019Ile
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