Canonical Allele Identifier: CA2645592
Community Standard Title: NM_006506.5(RASA2):c.1678A>G (p.Ser560Gly)
Gene: RASA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.141581103A>G , CM000665.2:g.141581103A>G GRCh38
NC_000003.11:g.141299945A>G , CM000665.1:g.141299945A>G GRCh37
NC_000003.10:g.142782635A>G NCBI36
NG_042187.1:g.99057A>G

Transcript Alleles

HGVS Amino-acid Change
NM_006506.5:c.1678A>G MANE Select NP_006497.2:p.Ser560Gly
ENST00000286364.9:c.1678A>G MANE Select ENSP00000286364.3:p.Ser560Gly
NM_001303245.1:c.1678A>G NP_001290174.1:p.Ser560Gly
NM_001303245.2:c.1678A>G NP_001290174.1:p.Ser560Gly
NM_001303245.3:c.1678A>G NP_001290174.1:p.Ser560Gly
NM_001303246.1:c.1678A>G NP_001290175.1:p.Ser560Gly
NM_001303246.2:c.1678A>G NP_001290175.1:p.Ser560Gly
NM_001303246.3:c.1678A>G NP_001290175.1:p.Ser560Gly
NM_006506.3:c.1678A>G NP_006497.2:p.Ser560Gly
ENST00000286364.7:c.1678A>G ENSP00000286364.3:p.Ser560Gly
ENST00000452898.2:c.1678A>G ENSP00000391677.2:p.Ser560Gly
ENST00000509032.5:n.172A>G
ENST00000509118.5:n.130A>G
XM_011513059.1:c.1687A>G XP_011511361.1:p.Ser563Gly
XM_011513059.2:c.1687A>G XP_011511361.1:p.Ser563Gly
XM_011513060.1:c.1015A>G XP_011511362.1:p.Ser339Gly
XM_017006968.1:c.1744A>G XP_016862457.1:p.Ser582Gly
XM_017006969.1:c.1744A>G XP_016862458.1:p.Ser582Gly
XM_017006970.1:c.1744A>G XP_016862459.1:p.Ser582Gly
XM_024453691.1:c.1504A>G XP_024309459.1:p.Ser502Gly