Canonical Allele Identifier: CA354772853
Community Standard Title: NM_006506.5(RASA2):c.716C>T (p.Ser239Phe)
Gene: RASA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.141558917C>T , CM000665.2:g.141558917C>T GRCh38
NC_000003.11:g.141277759C>T , CM000665.1:g.141277759C>T GRCh37
NC_000003.10:g.142760449C>T NCBI36
NG_042187.1:g.76871C>T

Transcript Alleles

HGVS Amino-acid Change
NM_006506.5:c.716C>T MANE Select NP_006497.2:p.Ser239Phe
ENST00000286364.9:c.716C>T MANE Select ENSP00000286364.3:p.Ser239Phe
NM_001303245.1:c.716C>T NP_001290174.1:p.Ser239Phe
NM_001303245.2:c.716C>T NP_001290174.1:p.Ser239Phe
NM_001303245.3:c.716C>T NP_001290174.1:p.Ser239Phe
NM_001303246.1:c.716C>T NP_001290175.1:p.Ser239Phe
NM_001303246.2:c.716C>T NP_001290175.1:p.Ser239Phe
NM_001303246.3:c.716C>T NP_001290175.1:p.Ser239Phe
NM_006506.3:c.716C>T NP_006497.2:p.Ser239Phe
ENST00000286364.7:c.716C>T ENSP00000286364.3:p.Ser239Phe
ENST00000452898.2:c.716C>T ENSP00000391677.2:p.Ser239Phe
XM_011513059.1:c.725C>T XP_011511361.1:p.Ser242Phe
XM_011513059.2:c.725C>T XP_011511361.1:p.Ser242Phe
XM_011513060.1:c.53C>T XP_011511362.1:p.Ser18Phe
XM_017006968.1:c.782C>T XP_016862457.1:p.Ser261Phe
XM_017006969.1:c.782C>T XP_016862458.1:p.Ser261Phe
XM_017006970.1:c.782C>T XP_016862459.1:p.Ser261Phe
XM_017006971.1:c.782C>T XP_016862460.1:p.Ser261Phe
XM_024453691.1:c.542C>T XP_024309459.1:p.Ser181Phe