Canonical Allele Identifier: CA658655644

Gene: ALK

Linked Data

• ClinVar Variation Id: 470839
• ClinVar RCV Id: RCV000558711 ; RCV004024159
• dbSNP Id: rs1444967093
• gnomAD v4: 2-29214086-G-A
• MyVariant Identifiers: chr2:g.29436952G>A (hg19) ; chr2:g.29214086G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.29214086G>A , CM000664.2:g.29214086G>A	GRCh38
NC_000002.11:g.29436952G>A , CM000664.1:g.29436952G>A	GRCh37
NC_000002.10:g.29290456G>A	NCBI36
NG_009445.1:g.712481C>T , LRG_488:g.712481C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389048.8:c.3646-5C>T MANE Select	ENSP00000373700.3:n.3646-5C>T
ENST00000431873.6:c.873-5C>T
ENST00000638605.1:n.523-5C>T
ENST00000642122.1:c.442-5C>T	ENSP00000493203.1:n.442-5C>T
ENST00000389048.7:c.3646-5C>T	ENSP00000373700.3:n.3646-5C>T
ENST00000431873.5:c.526-5C>T	ENSP00000414027.2:n.526-5C>T
ENST00000618119.4:c.2515-5C>T	ENSP00000482733.1:n.2515-5C>T
NM_004304.4:c.3646-5C>T	NP_004295.2:n.3646-5C>T
NM_001353765.1:c.442-5C>T	NP_001340694.1:n.442-5C>T
XM_024452778.1:c.799-5C>T	XP_024308546.1:n.799-5C>T
XM_024452779.1:c.442-5C>T	XP_024308547.1:n.442-5C>T
NM_004304.5:c.3646-5C>T MANE Select	NP_004295.2:n.3646-5C>T
NM_001353765.2:c.442-5C>T	NP_001340694.1:n.442-5C>T