Canonical Allele Identifier: CA531672852
Gene: ALK HGNC NCBI

Linked Data

dbSNP Id: rs1425811744
gnomAD v2: 2-29940413-T-G
gnomAD v3: 2-29717547-T-G
gnomAD v4: 2-29717547-T-G
MyVariant Identifiers: chr2:g.29940413T>G (hg19) chr2:g.29717547T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.29717547T>G , CM000664.2:g.29717547T>G GRCh38
NC_000002.11:g.29940413T>G , CM000664.1:g.29940413T>G GRCh37
NC_000002.10:g.29793917T>G NCBI36
NG_009445.1:g.209020A>C , LRG_488:g.209020A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000389048.8:c.787+31A>C MANE Select ENSP00000373700.3:n.787+31A>C
ENST00000389048.7:c.787+31A>C ENSP00000373700.3:n.787+31A>C
ENST00000618119.4:c.-345+31A>C ENSP00000482733.1:n.-345+31A>C
NM_004304.4:c.787+31A>C NP_004295.2:n.787+31A>C
XR_001738688.2:n.1717+31A>C
NM_004304.5:c.787+31A>C MANE Select NP_004295.2:n.787+31A>C
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