Canonical Allele Identifier: CA857357
Community Standard Title: NM_002979.5(SCP2):c.1234A>G (p.Ser412Gly)
Gene: SCP2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.53015042A>G , CM000663.2:g.53015042A>G GRCh38
NC_000001.10:g.53480714A>G , CM000663.1:g.53480714A>G GRCh37
NC_000001.9:g.53253302A>G NCBI36
NG_012211.1:g.92767A>G

Transcript Alleles

HGVS Amino-acid Change
NM_002979.5:c.1234A>G MANE Select NP_002970.2:p.Ser412Gly
ENST00000371514.8:c.1234A>G MANE Select ENSP00000360569.3:p.Ser412Gly
NM_001007099.2:c.22A>G NP_001007100.1:p.Ser8Gly
NM_001007099.3:c.22A>G NP_001007100.1:p.Ser8Gly
NM_001007100.2:c.22A>G NP_001007101.1:p.Arg8Gly
NM_001007100.3:c.22A>G NP_001007101.1:p.Arg8Gly
NM_001007250.2:c.22A>G NP_001007251.1:p.Ser8Gly
NM_001007250.3:c.22A>G NP_001007251.1:p.Ser8Gly
NM_001193599.1:c.1162A>G NP_001180528.1:p.Ser388Gly
NM_001193599.2:c.1162A>G NP_001180528.1:p.Ser388Gly
NM_001193600.1:c.1102A>G NP_001180529.1:p.Ser368Gly
NM_001193600.2:c.1102A>G NP_001180529.1:p.Ser368Gly
NM_001193617.1:c.991A>G NP_001180546.1:p.Ser331Gly
NM_001193617.2:c.991A>G NP_001180546.1:p.Ser331Gly
NM_002979.4:c.1234A>G NP_002970.2:p.Ser412Gly
ENST00000371509.8:c.1102A>G ENSP00000360564.4:p.Ser368Gly
ENST00000371514.7:c.1234A>G ENSP00000360569.3:p.Ser412Gly
ENST00000407246.6:c.1162A>G ENSP00000384569.2:p.Ser388Gly
ENST00000408941.7:c.22A>G ENSP00000386214.3:p.Ser8Gly
ENST00000430330.6:c.22A>G ENSP00000406636.2:p.Arg8Gly
ENST00000435345.6:c.22A>G ENSP00000396413.2:p.Ser8Gly
ENST00000478274.6:c.77A>G
ENST00000478631.6:c.*2876A>G ENSP00000435194.1:n.*2876A>G
ENST00000484100.5:c.77A>G
ENST00000488965.1:c.22A>G ENSP00000435783.1:p.Ser8Gly
ENST00000528311.5:c.991A>G ENSP00000434132.1:p.Ser331Gly
ENST00000533119.1:c.77A>G
XM_005271103.3:c.1234A>G XP_005271160.1:p.Ser412Gly
XM_005271103.4:c.1234A>G XP_005271160.1:p.Ser412Gly