Canonical Allele Identifier: CA350073406

Gene: FASTKD2

Linked Data

• gnomAD v4: 2-206767438-A-G
• MyVariant Identifiers: chr2:g.207632162A>G (hg19) ; chr2:g.206767438A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.206767438A>G , CM000664.2:g.206767438A>G	GRCh38
NC_000002.11:g.207632162A>G , CM000664.1:g.207632162A>G	GRCh37
NC_000002.10:g.207340407A>G	NCBI36
NG_008984.1:g.7051A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000402774.8:c.745A>G MANE Select	ENSP00000385990.3:p.Ile249Val
ENST00000236980.10:c.745A>G	ENSP00000236980.6:p.Ile249Val
ENST00000402774.7:c.745A>G	ENSP00000385990.3:p.Ile249Val
ENST00000403094.3:c.745A>G	ENSP00000384929.3:p.Ile249Val
ENST00000487777.5:n.803A>G
NM_001136193.1:c.745A>G	NP_001129665.1:p.Ile249Val
NM_001136194.1:c.745A>G	NP_001129666.1:p.Ile249Val
NM_014929.3:c.745A>G	NP_055744.2:p.Ile249Val
NM_001136193.2:c.745A>G MANE Select	NP_001129665.1:p.Ile249Val
NM_001136194.2:c.745A>G	NP_001129666.1:p.Ile249Val
NM_014929.4:c.745A>G	NP_055744.2:p.Ile249Val