Canonical Allele Identifier: CA44631202

Gene: ALK

Linked Data

• ClinVar Variation Id: 772001
• ClinVar RCV Id: RCV000951426 ; RCV001020402
• dbSNP Id: rs888578421
• gnomAD v2: 2-29445245-G-A
• gnomAD v4: 2-29222379-G-A
• MyVariant Identifiers: chr2:g.29445245G>A (hg19) ; chr2:g.29222379G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.29222379G>A , CM000664.2:g.29222379G>A	GRCh38
NC_000002.11:g.29445245G>A , CM000664.1:g.29445245G>A	GRCh37
NC_000002.10:g.29298749G>A	NCBI36
NG_009445.1:g.704188C>T , LRG_488:g.704188C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389048.8:c.3480C>T MANE Select	ENSP00000373700.3:p.Asp1160=
ENST00000431873.6:c.707C>T
ENST00000638605.1:n.357C>T
ENST00000642122.1:c.276C>T	ENSP00000493203.1:p.Asp92=
ENST00000389048.7:c.3480C>T	ENSP00000373700.3:p.Asp1160=
ENST00000431873.5:c.360C>T	ENSP00000414027.2:p.Asp120=
ENST00000453137.1:c.174C>T	ENSP00000387488.1:p.Asp58=
ENST00000618119.4:c.2349C>T	ENSP00000482733.1:p.Asp783=
NM_004304.4:c.3480C>T	NP_004295.2:p.Asp1160=
NM_001353765.1:c.276C>T	NP_001340694.1:p.Asp92=
XM_024452778.1:c.633C>T	XP_024308546.1:p.Asp211=
XM_024452779.1:c.276C>T	XP_024308547.1:p.Asp92=
NM_004304.5:c.3480C>T MANE Select	NP_004295.2:p.Asp1160=
NM_001353765.2:c.276C>T	NP_001340694.1:p.Asp92=