Canonical Allele Identifier: CA350073134

Gene: FASTKD2

Linked Data

• MyVariant Identifiers: chr2:g.207632107G>C (hg19) ; chr2:g.206767383G>C (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000402774.8:c.690G>C MANE Select	ENSP00000385990.3:p.Lys230Asn
ENST00000236980.10:c.690G>C	ENSP00000236980.6:p.Lys230Asn
ENST00000402774.7:c.690G>C	ENSP00000385990.3:p.Lys230Asn
ENST00000403094.3:c.690G>C	ENSP00000384929.3:p.Lys230Asn
ENST00000487777.5:n.748G>C
NM_001136193.1:c.690G>C	NP_001129665.1:p.Lys230Asn
NM_001136194.1:c.690G>C	NP_001129666.1:p.Lys230Asn
NM_014929.3:c.690G>C	NP_055744.2:p.Lys230Asn
NM_001136193.2:c.690G>C MANE Select	NP_001129665.1:p.Lys230Asn
NM_001136194.2:c.690G>C	NP_001129666.1:p.Lys230Asn
NM_014929.4:c.690G>C	NP_055744.2:p.Lys230Asn