Canonical Allele Identifier: CA290847

Gene: FASTKD2

Linked Data

• ClinVar Variation Id: 137293
• ClinVar RCV Id: RCV000124984 ; RCV000419296 ; RCV001136864 ; RCV003915250
• dbSNP Id: rs147727753
• ExAC: 2:207631446 G / C
• gnomAD v2: 2-207631446-G-C
• gnomAD v3: 2-206766722-G-C
• gnomAD v4: 2-206766722-G-C
• MyVariant Identifiers: chr2:g.207631446G>C (hg19) ; chr2:g.206766722G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.206766722G>C , CM000664.2:g.206766722G>C	GRCh38
NC_000002.11:g.207631446G>C , CM000664.1:g.207631446G>C	GRCh37
NC_000002.10:g.207339691G>C	NCBI36
NG_008984.1:g.6335G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000402774.8:c.29G>C MANE Select	ENSP00000385990.3:p.Ser10Thr
ENST00000236980.10:c.29G>C	ENSP00000236980.6:p.Ser10Thr
ENST00000402774.7:c.29G>C	ENSP00000385990.3:p.Ser10Thr
ENST00000403094.3:c.29G>C	ENSP00000384929.3:p.Ser10Thr
ENST00000418289.1:c.29G>C	ENSP00000409927.1:p.Ser10Thr
ENST00000487777.5:n.87G>C
NM_001136193.1:c.29G>C	NP_001129665.1:p.Ser10Thr
NM_001136194.1:c.29G>C	NP_001129666.1:p.Ser10Thr
NM_014929.3:c.29G>C	NP_055744.2:p.Ser10Thr
NM_001136193.2:c.29G>C MANE Select	NP_001129665.1:p.Ser10Thr
NM_001136194.2:c.29G>C	NP_001129666.1:p.Ser10Thr
NM_014929.4:c.29G>C	NP_055744.2:p.Ser10Thr