Canonical Allele Identifier: CA323091
Gene: FASTKD2 HGNC NCBI

Linked Data

ClinVar Variation Id: 214350
ClinVar RCV Id: RCV000198572
dbSNP Id: rs863223962
MyVariant Identifiers: chr2:g.207632099C>T (hg19) chr2:g.206767375C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.206767375C>T , CM000664.2:g.206767375C>T GRCh38
NC_000002.11:g.207632099C>T , CM000664.1:g.207632099C>T GRCh37
NC_000002.10:g.207340344C>T NCBI36
NG_008984.1:g.6988C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000402774.8:c.682C>T MANE Select ENSP00000385990.3:p.Gln228Ter
ENST00000236980.10:c.682C>T ENSP00000236980.6:p.Gln228Ter
ENST00000402774.7:c.682C>T ENSP00000385990.3:p.Gln228Ter
ENST00000403094.3:c.682C>T ENSP00000384929.3:p.Gln228Ter
ENST00000487777.5:n.740C>T
NM_001136193.1:c.682C>T NP_001129665.1:p.Gln228Ter
NM_001136194.1:c.682C>T NP_001129666.1:p.Gln228Ter
NM_014929.3:c.682C>T NP_055744.2:p.Gln228Ter
NM_001136193.2:c.682C>T MANE Select NP_001129665.1:p.Gln228Ter
NM_001136194.2:c.682C>T NP_001129666.1:p.Gln228Ter
NM_014929.4:c.682C>T NP_055744.2:p.Gln228Ter
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