Canonical Allele Identifier: CA2074954

Gene: FASTKD2

Linked Data

• dbSNP Id: rs750153647
• ExAC: 2:207632219 AT / A
• gnomAD v2: 2-207632219-AT-A
• gnomAD v4: 2-206767495-AT-A
• MyVariant Identifiers: chr2:g.207632220del (hg19) ; chr2:g.206767496del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.206767496del , CM000664.2:g.206767496del	GRCh38
NC_000002.11:g.207632220del , CM000664.1:g.207632220del	GRCh37
NC_000002.10:g.207340465del	NCBI36
NG_008984.1:g.7109del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000402774.8:c.777+26del MANE Select	ENSP00000385990.3:n.777+26del
ENST00000236980.10:c.777+26del	ENSP00000236980.6:n.777+26del
ENST00000402774.7:c.777+26del	ENSP00000385990.3:n.777+26del
ENST00000403094.3:c.777+26del	ENSP00000384929.3:n.777+26del
ENST00000487777.5:n.835+26del
NM_001136193.1:c.777+26del	NP_001129665.1:n.777+26del
NM_001136194.1:c.777+26del	NP_001129666.1:n.777+26del
NM_014929.3:c.777+26del	NP_055744.2:n.777+26del
NM_001136193.2:c.777+26del MANE Select	NP_001129665.1:n.777+26del
NM_001136194.2:c.777+26del	NP_001129666.1:n.777+26del
NM_014929.4:c.777+26del	NP_055744.2:n.777+26del