Canonical Allele Identifier: CA431114906

Gene: FASTKD2

Linked Data

• dbSNP Id: rs1406789062
• gnomAD v2: 2-207632107-G-A
• MyVariant Identifiers: chr2:g.207632107G>A (hg19) ; chr2:g.206767383G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.206767383G>A , CM000664.2:g.206767383G>A	GRCh38
NC_000002.11:g.207632107G>A , CM000664.1:g.207632107G>A	GRCh37
NC_000002.10:g.207340352G>A	NCBI36
NG_008984.1:g.6996G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000402774.8:c.690G>A MANE Select	ENSP00000385990.3:p.Lys230=
ENST00000236980.10:c.690G>A	ENSP00000236980.6:p.Lys230=
ENST00000402774.7:c.690G>A	ENSP00000385990.3:p.Lys230=
ENST00000403094.3:c.690G>A	ENSP00000384929.3:p.Lys230=
ENST00000487777.5:n.748G>A
NM_001136193.1:c.690G>A	NP_001129665.1:p.Lys230=
NM_001136194.1:c.690G>A	NP_001129666.1:p.Lys230=
NM_014929.3:c.690G>A	NP_055744.2:p.Lys230=
NM_001136193.2:c.690G>A MANE Select	NP_001129665.1:p.Lys230=
NM_001136194.2:c.690G>A	NP_001129666.1:p.Lys230=
NM_014929.4:c.690G>A	NP_055744.2:p.Lys230=