Canonical Allele Identifier: CA44655597

Gene: ALK

Linked Data

• ClinVar Variation Id: 643179
• ClinVar RCV Id: RCV000796826 ; RCV001020573 ; RCV003317370
• dbSNP Id: rs1002995598
• gnomAD v2: 2-29443669-A-G
• gnomAD v3: 2-29220803-A-G
• gnomAD v4: 2-29220803-A-G
• MyVariant Identifiers: chr2:g.29443669A>G (hg19) ; chr2:g.29220803A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.29220803A>G , CM000664.2:g.29220803A>G	GRCh38
NC_000002.11:g.29443669A>G , CM000664.1:g.29443669A>G	GRCh37
NC_000002.10:g.29297173A>G	NCBI36
NG_009445.1:g.705764T>C , LRG_488:g.705764T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389048.8:c.3548T>C MANE Select	ENSP00000373700.3:p.Ile1183Thr
ENST00000431873.6:c.775T>C
ENST00000638605.1:n.425T>C
ENST00000642122.1:c.344T>C	ENSP00000493203.1:p.Ile115Thr
ENST00000389048.7:c.3548T>C	ENSP00000373700.3:p.Ile1183Thr
ENST00000431873.5:c.428T>C	ENSP00000414027.2:p.Ile143Thr
ENST00000618119.4:c.2417T>C	ENSP00000482733.1:p.Ile806Thr
NM_004304.4:c.3548T>C	NP_004295.2:p.Ile1183Thr
NM_001353765.1:c.344T>C	NP_001340694.1:p.Ile115Thr
XM_024452778.1:c.701T>C	XP_024308546.1:p.Ile234Thr
XM_024452779.1:c.344T>C	XP_024308547.1:p.Ile115Thr
NM_004304.5:c.3548T>C MANE Select	NP_004295.2:p.Ile1183Thr
NM_001353765.2:c.344T>C	NP_001340694.1:p.Ile115Thr