Canonical Allele Identifier: CA1323320546

Gene: FASTKD2

Linked Data

• dbSNP Id: rs1689539459

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.206767267_206767268insT , CM000664.2:g.206767267_206767268insT	GRCh38
NC_000002.11:g.207631991_207631992insT , CM000664.1:g.207631991_207631992insT	GRCh37
NC_000002.10:g.207340236_207340237insT	NCBI36
NG_008984.1:g.6880_6881insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000402774.8:c.574_575insT MANE Select	ENSP00000385990.3:p.Ala192ValfsTer6
ENST00000236980.10:c.574_575insT	ENSP00000236980.6:p.Ala192ValfsTer6
ENST00000402774.7:c.574_575insT	ENSP00000385990.3:p.Ala192ValfsTer6
ENST00000403094.3:c.574_575insT	ENSP00000384929.3:p.Ala192ValfsTer6
ENST00000487777.5:n.632_633insT
NM_001136193.1:c.574_575insT	NP_001129665.1:p.Ala192ValfsTer6
NM_001136194.1:c.574_575insT	NP_001129666.1:p.Ala192ValfsTer6
NM_014929.3:c.574_575insT	NP_055744.2:p.Ala192ValfsTer6
NM_001136193.2:c.574_575insT MANE Select	NP_001129665.1:p.Ala192ValfsTer6
NM_001136194.2:c.574_575insT	NP_001129666.1:p.Ala192ValfsTer6
NM_014929.4:c.574_575insT	NP_055744.2:p.Ala192ValfsTer6