Canonical Allele Identifier: CA63710670

Gene: FASTKD2

Linked Data

• ClinVar Variation Id: 1276728
• ClinVar RCV Id: RCV001687920
• dbSNP Id: rs3086026
• gnomAD v2: 2-207632364-C-CTAGT
• gnomAD v3: 2-206767640-C-CTAGT
• gnomAD v4: 2-206767640-C-CTAGT
• MyVariant Identifiers: chr2:g.207632364_207632365insTAGT (hg19) ; chr2:g.206767640_206767641insTAGT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.206767642_206767643insGTTA , CM000664.2:g.206767642_206767643insGTTA	GRCh38
NC_000002.11:g.207632366_207632367insGTTA , CM000664.1:g.207632366_207632367insGTTA	GRCh37
NC_000002.10:g.207340611_207340612insGTTA	NCBI36
NG_008984.1:g.7255_7256insGTTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000402774.8:c.777+172_777+173insGTTA MANE Select	ENSP00000385990.3:n.777+172_777+173insGTTA
ENST00000236980.10:c.777+172_777+173insGTTA	ENSP00000236980.6:n.777+172_777+173insGTTA
ENST00000402774.7:c.777+172_777+173insGTTA	ENSP00000385990.3:n.777+172_777+173insGTTA
ENST00000403094.3:c.777+172_777+173insGTTA	ENSP00000384929.3:n.777+172_777+173insGTTA
ENST00000487777.5:n.835+172_835+173insGTTA
NM_001136193.1:c.777+172_777+173insGTTA	NP_001129665.1:n.777+172_777+173insGTTA
NM_001136194.1:c.777+172_777+173insGTTA	NP_001129666.1:n.777+172_777+173insGTTA
NM_014929.3:c.777+172_777+173insGTTA	NP_055744.2:n.777+172_777+173insGTTA
NM_001136193.2:c.777+172_777+173insGTTA MANE Select	NP_001129665.1:n.777+172_777+173insGTTA
NM_001136194.2:c.777+172_777+173insGTTA	NP_001129666.1:n.777+172_777+173insGTTA
NM_014929.4:c.777+172_777+173insGTTA	NP_055744.2:n.777+172_777+173insGTTA