Canonical Allele Identifier: CA355953426

Gene: SPON2

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1171046A>G , CM000666.2:g.1171046A>G	GRCh38
NC_000004.11:g.1164834A>G , CM000666.1:g.1164834A>G	GRCh37
NC_000004.10:g.1154834A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_012445.4:c.589T>C MANE Select	NP_036577.2:p.Phe197Leu
ENST00000290902.10:c.589T>C MANE Select	ENSP00000290902.5:p.Phe197Leu
NM_001128325.2:c.589T>C	NP_001121797.1:p.Phe197Leu
NM_001128325.3:c.589T>C	NP_001121797.2:p.Phe197Leu
NM_001199021.1:c.589T>C	NP_001185950.1:p.Phe197Leu
NM_001199021.2:c.589T>C	NP_001185950.2:p.Phe197Leu
NM_012445.3:c.589T>C	NP_036577.1:p.Phe197Leu
ENST00000290902.9:c.589T>C	ENSP00000290902.5:p.Phe197Leu
ENST00000431380.5:c.589T>C	ENSP00000394832.1:p.Phe197Leu
ENST00000507466.1:n.508T>C
ENST00000509697.1:n.25T>C
ENST00000617421.4:c.589T>C	ENSP00000483599.1:p.Phe197Leu