Canonical Allele Identifier: CA16604027

Gene: FASTKD2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.206788169T>C , CM000664.2:g.206788169T>C	GRCh38
NC_000002.11:g.207652893T>C , CM000664.1:g.207652893T>C	GRCh37
NC_000002.10:g.207361138T>C	NCBI36
NG_008984.1:g.27782T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001136193.2:c.1813+14T>C MANE Select	NP_001129665.1:n.1813+14T>C
ENST00000402774.8:c.1813+14T>C MANE Select	ENSP00000385990.3:n.1813+14T>C
NM_001136193.1:c.1813+14T>C	NP_001129665.1:n.1813+14T>C
NM_001136194.1:c.1813+14T>C	NP_001129666.1:n.1813+14T>C
NM_001136194.2:c.1813+14T>C	NP_001129666.1:n.1813+14T>C
NM_014929.3:c.1813+14T>C	NP_055744.2:n.1813+14T>C
NM_014929.4:c.1813+14T>C	NP_055744.2:n.1813+14T>C
ENST00000236980.10:c.1813+14T>C	ENSP00000236980.6:n.1813+14T>C
ENST00000402774.7:c.1813+14T>C	ENSP00000385990.3:n.1813+14T>C
ENST00000403094.3:c.1813+14T>C	ENSP00000384929.3:n.1813+14T>C
ENST00000471788.1:n.505+14T>C
ENST00000487777.5:n.1871+14T>C