Canonical Allele Identifier: CA2074896

Gene: FASTKD2

Linked Data

• ClinVar Variation Id: 2414197
• ClinVar RCV Id: RCV003106530
• dbSNP Id: rs532997479
• ExAC: 2:207631945 G / T
• gnomAD v2: 2-207631945-G-T
• gnomAD v4: 2-206767221-G-T
• MyVariant Identifiers: chr2:g.207631945G>T (hg19) ; chr2:g.206767221G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.206767221G>T , CM000664.2:g.206767221G>T	GRCh38
NC_000002.11:g.207631945G>T , CM000664.1:g.207631945G>T	GRCh37
NC_000002.10:g.207340190G>T	NCBI36
NG_008984.1:g.6834G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000402774.8:c.528G>T MANE Select	ENSP00000385990.3:p.Ala176=
ENST00000236980.10:c.528G>T	ENSP00000236980.6:p.Ala176=
ENST00000402774.7:c.528G>T	ENSP00000385990.3:p.Ala176=
ENST00000403094.3:c.528G>T	ENSP00000384929.3:p.Ala176=
ENST00000487777.5:n.586G>T
NM_001136193.1:c.528G>T	NP_001129665.1:p.Ala176=
NM_001136194.1:c.528G>T	NP_001129666.1:p.Ala176=
NM_014929.3:c.528G>T	NP_055744.2:p.Ala176=
NM_001136193.2:c.528G>T MANE Select	NP_001129665.1:p.Ala176=
NM_001136194.2:c.528G>T	NP_001129666.1:p.Ala176=
NM_014929.4:c.528G>T	NP_055744.2:p.Ala176=