Canonical Allele Identifier: CA1593925

Gene: ALK

Linked Data

• dbSNP Id: rs749951867
• ExAC: 2:29445253 C / G
• gnomAD v2: 2-29445253-C-G
• MyVariant Identifiers: chr2:g.29445253C>G (hg19) ; chr2:g.29222387C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.29222387C>G , CM000664.2:g.29222387C>G	GRCh38
NC_000002.11:g.29445253C>G , CM000664.1:g.29445253C>G	GRCh37
NC_000002.10:g.29298757C>G	NCBI36
NG_009445.1:g.704180G>C , LRG_488:g.704180G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389048.8:c.3472G>C MANE Select	ENSP00000373700.3:p.Glu1158Gln
ENST00000431873.6:c.699G>C
ENST00000638605.1:n.349G>C
ENST00000642122.1:c.268G>C	ENSP00000493203.1:p.Glu90Gln
ENST00000389048.7:c.3472G>C	ENSP00000373700.3:p.Glu1158Gln
ENST00000431873.5:c.352G>C	ENSP00000414027.2:p.Glu118Gln
ENST00000453137.1:c.166G>C	ENSP00000387488.1:p.Glu56Gln
ENST00000618119.4:c.2341G>C	ENSP00000482733.1:p.Glu781Gln
NM_004304.4:c.3472G>C	NP_004295.2:p.Glu1158Gln
NM_001353765.1:c.268G>C	NP_001340694.1:p.Glu90Gln
XM_024452778.1:c.625G>C	XP_024308546.1:p.Glu209Gln
XM_024452779.1:c.268G>C	XP_024308547.1:p.Glu90Gln
NM_004304.5:c.3472G>C MANE Select	NP_004295.2:p.Glu1158Gln
NM_001353765.2:c.268G>C	NP_001340694.1:p.Glu90Gln