Canonical Allele Identifier: CA2074833

Gene: FASTKD2

Linked Data

• ClinVar Variation Id: 376842
• ClinVar RCV Id: RCV000442317 ; RCV001136866 ; RCV003912596
• dbSNP Id: rs141447598
• ExAC: 2:207631566 A / G
• gnomAD v2: 2-207631566-A-G
• gnomAD v3: 2-206766842-A-G
• gnomAD v4: 2-206766842-A-G
• MyVariant Identifiers: chr2:g.207631566A>G (hg19) ; chr2:g.206766842A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.206766842A>G , CM000664.2:g.206766842A>G	GRCh38
NC_000002.11:g.207631566A>G , CM000664.1:g.207631566A>G	GRCh37
NC_000002.10:g.207339811A>G	NCBI36
NG_008984.1:g.6455A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000402774.8:c.149A>G MANE Select	ENSP00000385990.3:p.Lys50Arg
ENST00000236980.10:c.149A>G	ENSP00000236980.6:p.Lys50Arg
ENST00000402774.7:c.149A>G	ENSP00000385990.3:p.Lys50Arg
ENST00000403094.3:c.149A>G	ENSP00000384929.3:p.Lys50Arg
ENST00000418289.1:c.149A>G	ENSP00000409927.1:p.Lys50Arg
ENST00000487777.5:n.207A>G
NM_001136193.1:c.149A>G	NP_001129665.1:p.Lys50Arg
NM_001136194.1:c.149A>G	NP_001129666.1:p.Lys50Arg
NM_014929.3:c.149A>G	NP_055744.2:p.Lys50Arg
NM_001136193.2:c.149A>G MANE Select	NP_001129665.1:p.Lys50Arg
NM_001136194.2:c.149A>G	NP_001129666.1:p.Lys50Arg
NM_014929.4:c.149A>G	NP_055744.2:p.Lys50Arg