Canonical Allele Identifier: CA1883732804
Community Standard Title: NM_016034.5(MRPS2):c.328C= (p.Arg110=)
Gene: MRPS2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.135503570C= , CM000671.2:g.135503570C= GRCh38
NC_000009.11:g.138395416C= , CM000671.1:g.138395416C= GRCh37
NC_000009.10:g.137535237C= NCBI36
NG_042313.1:g.7940C=

Transcript Alleles

HGVS Amino-acid Change
NM_016034.5:c.328C= MANE Select NP_057118.1:p.Arg110=
ENST00000241600.10:c.328C= MANE Select ENSP00000241600.5:p.Arg110=
NM_001371401.1:c.328C= NP_001358330.1:p.Arg110=
NM_016034.4:c.328C= NP_057118.1:p.Arg110=
NR_051967.1:n.551C=
NR_051967.3:n.500C=
NR_051968.1:n.606C=
NR_051968.2:n.555C=
NR_051969.1:n.611C=
NR_051969.2:n.560C=
NR_051970.1:n.553C=
NR_051970.2:n.502C=
NR_121579.1:n.820G=
ENST00000241600.9:c.328C= ENSP00000241600.5:p.Arg110=
ENST00000371785.5:c.328C= ENSP00000360850.1:p.Arg110=
ENST00000453385.1:c.370C= ENSP00000400082.1:p.Arg124=
ENST00000462948.5:n.527C=
ENST00000462948.6:c.*201C= ENSP00000511903.1:n.*201C=
ENST00000472852.1:n.469C=
ENST00000472852.2:c.*134C= ENSP00000511904.1:n.*134C=
ENST00000472946.1:n.79C=
ENST00000472946.2:n.93C=
ENST00000485333.5:n.475C=
ENST00000485333.6:c.*159C= ENSP00000511905.1:n.*159C=
ENST00000488610.5:n.538C=
ENST00000488610.6:c.*217C= ENSP00000511906.1:n.*217C=
XM_006717136.2:c.397C= XP_006717199.1:p.Arg133=
XM_006717136.3:c.397C= XP_006717199.1:p.Arg133=