Canonical Allele Identifier: CA2074853

Gene: FASTKD2

Linked Data

• dbSNP Id: rs775348698
• ExAC: 2:207631705 C / T
• gnomAD v2: 2-207631705-C-T
• gnomAD v4: 2-206766981-C-T
• MyVariant Identifiers: chr2:g.207631705C>T (hg19) ; chr2:g.206766981C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.206766981C>T , CM000664.2:g.206766981C>T	GRCh38
NC_000002.11:g.207631705C>T , CM000664.1:g.207631705C>T	GRCh37
NC_000002.10:g.207339950C>T	NCBI36
NG_008984.1:g.6594C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000402774.8:c.288C>T MANE Select	ENSP00000385990.3:p.Ser96=
ENST00000236980.10:c.288C>T	ENSP00000236980.6:p.Ser96=
ENST00000402774.7:c.288C>T	ENSP00000385990.3:p.Ser96=
ENST00000403094.3:c.288C>T	ENSP00000384929.3:p.Ser96=
ENST00000418289.1:c.288C>T	ENSP00000409927.1:p.Ser96=
ENST00000487777.5:n.346C>T
NM_001136193.1:c.288C>T	NP_001129665.1:p.Ser96=
NM_001136194.1:c.288C>T	NP_001129666.1:p.Ser96=
NM_014929.3:c.288C>T	NP_055744.2:p.Ser96=
NM_001136193.2:c.288C>T MANE Select	NP_001129665.1:p.Ser96=
NM_001136194.2:c.288C>T	NP_001129666.1:p.Ser96=
NM_014929.4:c.288C>T	NP_055744.2:p.Ser96=