Canonical Allele Identifier: CA114376
Gene: FASTKD2 HGNC NCBI

Linked Data

ClinVar Variation Id: 641
dbSNP Id: rs118203917

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.206774264C>T , CM000664.2:g.206774264C>T GRCh38
NC_000002.11:g.207638988C>T , CM000664.1:g.207638988C>T GRCh37
NC_000002.10:g.207347233C>T NCBI36
NG_008984.1:g.13877C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000402774.8:c.1294C>T MANE Select ENSP00000385990.3:p.Arg432Ter
ENST00000236980.10:c.1294C>T ENSP00000236980.6:p.Arg432Ter
ENST00000402774.7:c.1294C>T ENSP00000385990.3:p.Arg432Ter
ENST00000403094.3:c.1294C>T ENSP00000384929.3:p.Arg432Ter
ENST00000487777.5:n.1352C>T
NM_001136193.1:c.1294C>T NP_001129665.1:p.Arg432Ter
NM_001136194.1:c.1294C>T NP_001129666.1:p.Arg432Ter
NM_014929.3:c.1294C>T NP_055744.2:p.Arg432Ter
NM_001136193.2:c.1294C>T MANE Select NP_001129665.1:p.Arg432Ter
NM_001136194.2:c.1294C>T NP_001129666.1:p.Arg432Ter
NM_014929.4:c.1294C>T NP_055744.2:p.Arg432Ter