Canonical Allele Identifier: CA1593867

Gene: ALK

Linked Data

• ClinVar Variation Id: 470834
• ClinVar RCV Id: RCV000530057 ; RCV002257826
• dbSNP Id: rs774872969
• ExAC: 2:29443693 T / C
• gnomAD v2: 2-29443693-T-C
• gnomAD v3: 2-29220827-T-C
• gnomAD v4: 2-29220827-T-C
• MyVariant Identifiers: chr2:g.29443693T>C (hg19) ; chr2:g.29220827T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.29220827T>C , CM000664.2:g.29220827T>C	GRCh38
NC_000002.11:g.29443693T>C , CM000664.1:g.29443693T>C	GRCh37
NC_000002.10:g.29297197T>C	NCBI36
NG_009445.1:g.705740A>G , LRG_488:g.705740A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389048.8:c.3524A>G MANE Select	ENSP00000373700.3:p.Asn1175Ser
ENST00000431873.6:c.751A>G
ENST00000638605.1:n.401A>G
ENST00000642122.1:c.320A>G	ENSP00000493203.1:p.Asn107Ser
ENST00000389048.7:c.3524A>G	ENSP00000373700.3:p.Asn1175Ser
ENST00000431873.5:c.404A>G	ENSP00000414027.2:p.Asn135Ser
ENST00000618119.4:c.2393A>G	ENSP00000482733.1:p.Asn798Ser
NM_004304.4:c.3524A>G	NP_004295.2:p.Asn1175Ser
NM_001353765.1:c.320A>G	NP_001340694.1:p.Asn107Ser
XM_024452778.1:c.677A>G	XP_024308546.1:p.Asn226Ser
XM_024452779.1:c.320A>G	XP_024308547.1:p.Asn107Ser
NM_004304.5:c.3524A>G MANE Select	NP_004295.2:p.Asn1175Ser
NM_001353765.2:c.320A>G	NP_001340694.1:p.Asn107Ser