Canonical Allele Identifier: CA346467681
Gene: ALK HGNC NCBI

Linked Data

ClinVar Variation Id: 2725783
ClinVar RCV Id: RCV003518500
dbSNP Id: rs1376365612
gnomAD v2: 2-29449859-G-A
gnomAD v3: 2-29226993-G-A
gnomAD v4: 2-29226993-G-A
MyVariant Identifiers: chr2:g.29449859G>A (hg19) chr2:g.29226993G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.29226993G>A , CM000664.2:g.29226993G>A GRCh38
NC_000002.11:g.29449859G>A , CM000664.1:g.29449859G>A GRCh37
NC_000002.10:g.29303363G>A NCBI36
NG_009445.1:g.699574C>T , LRG_488:g.699574C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000389048.8:c.2996C>T MANE Select ENSP00000373700.3:p.Pro999Leu
ENST00000431873.6:c.162C>T
ENST00000389048.7:c.2996C>T ENSP00000373700.3:p.Pro999Leu
ENST00000618119.4:c.1865C>T ENSP00000482733.1:p.Pro622Leu
NM_004304.4:c.2996C>T NP_004295.2:p.Pro999Leu
XM_024452778.1:c.149C>T XP_024308546.1:p.Pro50Leu
XR_001738688.2:n.3852C>T
NM_004304.5:c.2996C>T MANE Select NP_004295.2:p.Pro999Leu
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