Canonical Allele Identifier: CA431114920

Gene: FASTKD2

Linked Data

• dbSNP Id: rs1181750056
• gnomAD v4: 2-206767387-C-T
• MyVariant Identifiers: chr2:g.207632111C>T (hg19) ; chr2:g.206767387C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.206767387C>T , CM000664.2:g.206767387C>T	GRCh38
NC_000002.11:g.207632111C>T , CM000664.1:g.207632111C>T	GRCh37
NC_000002.10:g.207340356C>T	NCBI36
NG_008984.1:g.7000C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000402774.8:c.694C>T MANE Select	ENSP00000385990.3:p.Leu232=
ENST00000236980.10:c.694C>T	ENSP00000236980.6:p.Leu232=
ENST00000402774.7:c.694C>T	ENSP00000385990.3:p.Leu232=
ENST00000403094.3:c.694C>T	ENSP00000384929.3:p.Leu232=
ENST00000487777.5:n.752C>T
NM_001136193.1:c.694C>T	NP_001129665.1:p.Leu232=
NM_001136194.1:c.694C>T	NP_001129666.1:p.Leu232=
NM_014929.3:c.694C>T	NP_055744.2:p.Leu232=
NM_001136193.2:c.694C>T MANE Select	NP_001129665.1:p.Leu232=
NM_001136194.2:c.694C>T	NP_001129666.1:p.Leu232=
NM_014929.4:c.694C>T	NP_055744.2:p.Leu232=