Canonical Allele Identifier: CA2074894
Gene: FASTKD2 HGNC NCBI

Linked Data

ClinVar Variation Id: 333802
dbSNP Id: rs367909050

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.206767220C>T , CM000664.2:g.206767220C>T GRCh38
NC_000002.11:g.207631944C>T , CM000664.1:g.207631944C>T GRCh37
NC_000002.10:g.207340189C>T NCBI36
NG_008984.1:g.6833C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000402774.8:c.527C>T MANE Select ENSP00000385990.3:p.Ala176Val
ENST00000236980.10:c.527C>T ENSP00000236980.6:p.Ala176Val
ENST00000402774.7:c.527C>T ENSP00000385990.3:p.Ala176Val
ENST00000403094.3:c.527C>T ENSP00000384929.3:p.Ala176Val
ENST00000487777.5:n.585C>T
NM_001136193.1:c.527C>T NP_001129665.1:p.Ala176Val
NM_001136194.1:c.527C>T NP_001129666.1:p.Ala176Val
NM_014929.3:c.527C>T NP_055744.2:p.Ala176Val
NM_001136193.2:c.527C>T MANE Select NP_001129665.1:p.Ala176Val
NM_001136194.2:c.527C>T NP_001129666.1:p.Ala176Val
NM_014929.4:c.527C>T NP_055744.2:p.Ala176Val