Canonical Allele Identifier: CA1595046

Gene: ALK

Linked Data

• ClinVar Variation Id: 470733
• ClinVar RCV Id: RCV000525534 ; RCV002420484 ; RCV003403320
• dbSNP Id: rs773691688
• ExAC: 2:30143419 G / A
• gnomAD v2: 2-30143419-G-A
• gnomAD v3: 2-29920553-G-A
• gnomAD v4: 2-29920553-G-A
• MyVariant Identifiers: chr2:g.30143419G>A (hg19) ; chr2:g.29920553G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.29920553G>A , CM000664.2:g.29920553G>A	GRCh38
NC_000002.11:g.30143419G>A , CM000664.1:g.30143419G>A	GRCh37
NC_000002.10:g.29996923G>A	NCBI36
NG_009445.1:g.6014C>T , LRG_488:g.6014C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389048.8:c.107C>T MANE Select	ENSP00000373700.3:p.Pro36Leu
ENST00000389048.7:c.107C>T	ENSP00000373700.3:p.Pro36Leu
NM_004304.4:c.107C>T	NP_004295.2:p.Pro36Leu
XR_001738688.2:n.1037C>T
NM_004304.5:c.107C>T MANE Select	NP_004295.2:p.Pro36Leu