Canonical Allele Identifier: CA1594541
Gene: ALK HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.29296949C>T
GRCh37 chr2:g.29519815C>T
Revel Score:
ENST00000389048 (MANE Select) 0.054
gnomAD v2:
2:29519815 C / T
gnomAD v3:
2:29296949 C / T
gnomAD v4:
chr2-29296949-C-T
Joint Max Group AF 0.00003471 (AFR)
Genomes Max Group AF 0.000008 (AFR)
Exomes Max Group AF 0.00003982 (AFR)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.29296949C>T , CM000664.2:g.29296949C>T GRCh38
NC_000002.11:g.29519815C>T , CM000664.1:g.29519815C>T GRCh37
NC_000002.10:g.29373319C>T NCBI36
NG_009445.1:g.629618G>A , LRG_488:g.629618G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000389048.8:c.1756G>A MANE Select ENSP00000373700.3:p.Ala586Thr
ENST00000389048.7:c.1756G>A ENSP00000373700.3:p.Ala586Thr
ENST00000498037.1:n.311G>A
ENST00000618119.4:c.625G>A ENSP00000482733.1:p.Ala209Thr
NM_004304.4:c.1756G>A NP_004295.2:p.Ala586Thr
XR_001738688.2:n.2686G>A
NM_004304.5:c.1756G>A MANE Select NP_004295.2:p.Ala586Thr
Search 100 bp 5'
Search 100 bp 3'