Canonical Allele Identifier: CA10454917
Gene: KIAA2022 HGNC NCBI

Linked Data

ClinVar Variation Id: 474071
dbSNP Id: rs61731613

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.74740848T>A , CM000685.2:g.74740848T>A GRCh38
NC_000023.10:g.73960683T>A , CM000685.1:g.73960683T>A GRCh37
NC_000023.9:g.73877408T>A NCBI36
NG_027726.1:g.189605A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000055682.12:c.3709A>T MANE Select ENSP00000055682.5:p.Met1237Leu
ENST00000616200.2:c.3709A>T ENSP00000480284.1:p.Met1237Leu
ENST00000642681.2:c.3709A>T ENSP00000495800.1:p.Met1237Leu
ENST00000055682.10:c.3709A>T ENSP00000055682.5:p.Met1237Leu
ENST00000616200.1:c.3709A>T ENSP00000480284.1:p.Met1237Leu
NM_001008537.2:c.3709A>T NP_001008537.1:p.Met1237Leu
XM_011530935.1:c.3709A>T XP_011529237.1:p.Met1237Leu
NM_001008537.3:c.3709A>T MANE Select NP_001008537.1:p.Met1237Leu