Canonical Allele Identifier: CA63710599

Gene: FASTKD2

Linked Data

• dbSNP Id: rs959853589
• gnomAD v4: 2-206767556-TAAAAG-T
• MyVariant Identifiers: chr2:g.207632281_207632285del (hg19) ; chr2:g.206767557_206767561del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.206767558_206767562del , CM000664.2:g.206767558_206767562del	GRCh38
NC_000002.11:g.207632282_207632286del , CM000664.1:g.207632282_207632286del	GRCh37
NC_000002.10:g.207340527_207340531del	NCBI36
NG_008984.1:g.7171_7175del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000402774.8:c.777+88_777+92del MANE Select	ENSP00000385990.3:n.777+88_777+92del
ENST00000236980.10:c.777+88_777+92del	ENSP00000236980.6:n.777+88_777+92del
ENST00000402774.7:c.777+88_777+92del	ENSP00000385990.3:n.777+88_777+92del
ENST00000403094.3:c.777+88_777+92del	ENSP00000384929.3:n.777+88_777+92del
ENST00000487777.5:n.835+88_835+92del
NM_001136193.1:c.777+88_777+92del	NP_001129665.1:n.777+88_777+92del
NM_001136194.1:c.777+88_777+92del	NP_001129666.1:n.777+88_777+92del
NM_014929.3:c.777+88_777+92del	NP_055744.2:n.777+88_777+92del
NM_001136193.2:c.777+88_777+92del MANE Select	NP_001129665.1:n.777+88_777+92del
NM_001136194.2:c.777+88_777+92del	NP_001129666.1:n.777+88_777+92del
NM_014929.4:c.777+88_777+92del	NP_055744.2:n.777+88_777+92del