Canonical Allele Identifier: CA2075354
Community Standard Title: NM_001136193.2(FASTKD2):c.2018A>G (p.Asn673Ser)
Gene: FASTKD2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.206791687A>G , CM000664.2:g.206791687A>G GRCh38
NC_000002.11:g.207656411A>G , CM000664.1:g.207656411A>G GRCh37
NC_000002.10:g.207364656A>G NCBI36
NG_008984.1:g.31300A>G

Transcript Alleles

HGVS Amino-acid Change
NM_001136193.2:c.2018A>G MANE Select NP_001129665.1:p.Asn673Ser
ENST00000402774.8:c.2018A>G MANE Select ENSP00000385990.3:p.Asn673Ser
NM_001136193.1:c.2018A>G NP_001129665.1:p.Asn673Ser
NM_001136194.1:c.2018A>G NP_001129666.1:p.Asn673Ser
NM_001136194.2:c.2018A>G NP_001129666.1:p.Asn673Ser
NM_014929.3:c.2018A>G NP_055744.2:p.Asn673Ser
NM_014929.4:c.2018A>G NP_055744.2:p.Asn673Ser
ENST00000236980.10:c.2018A>G ENSP00000236980.6:p.Asn673Ser
ENST00000402774.7:c.2018A>G ENSP00000385990.3:p.Asn673Ser
ENST00000403094.3:c.2018A>G ENSP00000384929.3:p.Asn673Ser
ENST00000487777.5:n.4740A>G