Canonical Allele Identifier: CA1883732835
Community Standard Title: NM_016034.5(MRPS2):c.340G= (p.Asp114=)
Gene: MRPS2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.135503582G= , CM000671.2:g.135503582G= GRCh38
NC_000009.11:g.138395428G= , CM000671.1:g.138395428G= GRCh37
NC_000009.10:g.137535249G= NCBI36
NG_042313.1:g.7952G=

Transcript Alleles

HGVS Amino-acid Change
NM_016034.5:c.340G= MANE Select NP_057118.1:p.Asp114=
ENST00000241600.10:c.340G= MANE Select ENSP00000241600.5:p.Asp114=
NM_001371401.1:c.340G= NP_001358330.1:p.Asp114=
NM_016034.4:c.340G= NP_057118.1:p.Asp114=
NR_051967.1:n.563G=
NR_051967.3:n.512G=
NR_051968.1:n.618G=
NR_051968.2:n.567G=
NR_051969.1:n.623G=
NR_051969.2:n.572G=
NR_051970.1:n.565G=
NR_051970.2:n.514G=
NR_121579.1:n.808C=
ENST00000241600.9:c.340G= ENSP00000241600.5:p.Asp114=
ENST00000371785.5:c.340G= ENSP00000360850.1:p.Asp114=
ENST00000453385.1:c.382G= ENSP00000400082.1:p.Asp128=
ENST00000462948.5:n.539G=
ENST00000462948.6:c.*213G= ENSP00000511903.1:n.*213G=
ENST00000472852.1:n.481G=
ENST00000472852.2:c.*146G= ENSP00000511904.1:n.*146G=
ENST00000472946.1:n.91G=
ENST00000472946.2:n.105G=
ENST00000485333.5:n.487G=
ENST00000485333.6:c.*171G= ENSP00000511905.1:n.*171G=
ENST00000488610.5:n.550G=
ENST00000488610.6:c.*229G= ENSP00000511906.1:n.*229G=
XM_006717136.2:c.409G= XP_006717199.1:p.Asp137=
XM_006717136.3:c.409G= XP_006717199.1:p.Asp137=