Canonical Allele Identifier: CA350073056

Gene: FASTKD2

Linked Data

• MyVariant Identifiers: chr2:g.207632094T>C (hg19) ; chr2:g.206767370T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.206767370T>C , CM000664.2:g.206767370T>C	GRCh38
NC_000002.11:g.207632094T>C , CM000664.1:g.207632094T>C	GRCh37
NC_000002.10:g.207340339T>C	NCBI36
NG_008984.1:g.6983T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000402774.8:c.677T>C MANE Select	ENSP00000385990.3:p.Ile226Thr
ENST00000236980.10:c.677T>C	ENSP00000236980.6:p.Ile226Thr
ENST00000402774.7:c.677T>C	ENSP00000385990.3:p.Ile226Thr
ENST00000403094.3:c.677T>C	ENSP00000384929.3:p.Ile226Thr
ENST00000487777.5:n.735T>C
NM_001136193.1:c.677T>C	NP_001129665.1:p.Ile226Thr
NM_001136194.1:c.677T>C	NP_001129666.1:p.Ile226Thr
NM_014929.3:c.677T>C	NP_055744.2:p.Ile226Thr
NM_001136193.2:c.677T>C MANE Select	NP_001129665.1:p.Ile226Thr
NM_001136194.2:c.677T>C	NP_001129666.1:p.Ile226Thr
NM_014929.4:c.677T>C	NP_055744.2:p.Ile226Thr