Canonical Allele Identifier: CA346463248

Gene: ALK

Linked Data

• ClinVar Variation Id: 3223862
• ClinVar RCV Id: RCV004516626
• dbSNP Id: rs2148168703
• MyVariant Identifiers: chr2:g.29445259A>G (hg19) ; chr2:g.29222393A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.29222393A>G , CM000664.2:g.29222393A>G	GRCh38
NC_000002.11:g.29445259A>G , CM000664.1:g.29445259A>G	GRCh37
NC_000002.10:g.29298763A>G	NCBI36
NG_009445.1:g.704174T>C , LRG_488:g.704174T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389048.8:c.3466T>C MANE Select	ENSP00000373700.3:p.Cys1156Arg
ENST00000431873.6:c.693T>C
ENST00000638605.1:n.343T>C
ENST00000642122.1:c.262T>C	ENSP00000493203.1:p.Cys88Arg
ENST00000389048.7:c.3466T>C	ENSP00000373700.3:p.Cys1156Arg
ENST00000431873.5:c.346T>C	ENSP00000414027.2:p.Cys116Arg
ENST00000453137.1:c.160T>C	ENSP00000387488.1:p.Cys54Arg
ENST00000618119.4:c.2335T>C	ENSP00000482733.1:p.Cys779Arg
NM_004304.4:c.3466T>C	NP_004295.2:p.Cys1156Arg
NM_001353765.1:c.262T>C	NP_001340694.1:p.Cys88Arg
XM_024452778.1:c.619T>C	XP_024308546.1:p.Cys207Arg
XM_024452779.1:c.262T>C	XP_024308547.1:p.Cys88Arg
NM_004304.5:c.3466T>C MANE Select	NP_004295.2:p.Cys1156Arg
NM_001353765.2:c.262T>C	NP_001340694.1:p.Cys88Arg