Canonical Allele Identifier: CA1594807
Gene: ALK HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.29694861T>C
GRCh37 chr2:g.29917727T>C
Revel Score:
ENST00000389048 (MANE Select) 0.136
gnomAD v2:
2:29917727 T / C
gnomAD v3:
2:29694861 T / C
gnomAD v4:
chr2-29694861-T-C
Joint Max Group AF 0.00074977 (EAS)
Exomes Max Group AF 0.00082633 (EAS)
ClinVar RCV:
RCV000647433
ClinVar Variation:
538228
dbSNP:
778845512
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.29694861T>C , CM000664.2:g.29694861T>C GRCh38
NC_000002.11:g.29917727T>C , CM000664.1:g.29917727T>C GRCh37
NC_000002.10:g.29771231T>C NCBI36
NG_009445.1:g.231706A>G , LRG_488:g.231706A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000389048.8:c.941A>G MANE Select ENSP00000373700.3:p.Glu314Gly
ENST00000389048.7:c.941A>G ENSP00000373700.3:p.Glu314Gly
ENST00000618119.4:c.-191A>G ENSP00000482733.1:n.-191A>G
NM_004304.4:c.941A>G NP_004295.2:p.Glu314Gly
XR_001738688.2:n.1871A>G
NM_004304.5:c.941A>G MANE Select NP_004295.2:p.Glu314Gly
Search 100 bp 5'
Search 100 bp 3'