Canonical Allele Identifier: CA91169734

Gene: SPON2

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1171044G>C , CM000666.2:g.1171044G>C	GRCh38
NC_000004.11:g.1164832G>C , CM000666.1:g.1164832G>C	GRCh37
NC_000004.10:g.1154832G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_012445.4:c.591C>G MANE Select	NP_036577.2:p.Phe197Leu
ENST00000290902.10:c.591C>G MANE Select	ENSP00000290902.5:p.Phe197Leu
NM_001128325.2:c.591C>G	NP_001121797.1:p.Phe197Leu
NM_001128325.3:c.591C>G	NP_001121797.2:p.Phe197Leu
NM_001199021.1:c.591C>G	NP_001185950.1:p.Phe197Leu
NM_001199021.2:c.591C>G	NP_001185950.2:p.Phe197Leu
NM_012445.3:c.591C>G	NP_036577.1:p.Phe197Leu
ENST00000290902.9:c.591C>G	ENSP00000290902.5:p.Phe197Leu
ENST00000431380.5:c.591C>G	ENSP00000394832.1:p.Phe197Leu
ENST00000507466.1:n.510C>G
ENST00000509697.1:n.27C>G
ENST00000617421.4:c.591C>G	ENSP00000483599.1:p.Phe197Leu