Canonical Allele Identifier: CA1593949

Gene: ALK

Linked Data

• dbSNP Id: rs754225147
• ExAC: 2:29445355 G / A
• gnomAD v2: 2-29445355-G-A
• gnomAD v3: 2-29222489-G-A
• gnomAD v4: 2-29222489-G-A
• MyVariant Identifiers: chr2:g.29445355G>A (hg19) ; chr2:g.29222489G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.29222489G>A , CM000664.2:g.29222489G>A	GRCh38
NC_000002.11:g.29445355G>A , CM000664.1:g.29445355G>A	GRCh37
NC_000002.10:g.29298859G>A	NCBI36
NG_009445.1:g.704078C>T , LRG_488:g.704078C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000389048.8:c.3450+28C>T MANE Select	ENSP00000373700.3:n.3450+28C>T
ENST00000431873.6:c.677+28C>T
ENST00000638605.1:n.327+28C>T
ENST00000642122.1:c.246+28C>T	ENSP00000493203.1:n.246+28C>T
ENST00000389048.7:c.3450+28C>T	ENSP00000373700.3:n.3450+28C>T
ENST00000431873.5:c.330+28C>T	ENSP00000414027.2:n.330+28C>T
ENST00000453137.1:c.144+28C>T	ENSP00000387488.1:n.144+28C>T
ENST00000618119.4:c.2319+28C>T	ENSP00000482733.1:n.2319+28C>T
NM_004304.4:c.3450+28C>T	NP_004295.2:n.3450+28C>T
NM_001353765.1:c.246+28C>T	NP_001340694.1:n.246+28C>T
XM_024452778.1:c.603+28C>T	XP_024308546.1:n.603+28C>T
XM_024452779.1:c.246+28C>T	XP_024308547.1:n.246+28C>T
NM_004304.5:c.3450+28C>T MANE Select	NP_004295.2:n.3450+28C>T
NM_001353765.2:c.246+28C>T	NP_001340694.1:n.246+28C>T