Canonical Allele Identifier: CA5323914

Gene: MRPS2

Linked Data

• ClinVar Variation Id: 523224
• ClinVar RCV Id: RCV000626472 ; RCV003727789
• dbSNP Id: rs201229537
• ExAC: 9:138395428 G / A
• gnomAD v2: 9-138395428-G-A
• gnomAD v3: 9-135503582-G-A
• gnomAD v4: 9-135503582-G-A
• COSMIC: COSM3905510
• MyVariant Identifiers: chr9:g.138395428G>A (hg19) ; chr9:g.135503582G>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000462948.6:c.*213G>A	ENSP00000511903.1:n.*213G>A
ENST00000472852.2:c.*146G>A	ENSP00000511904.1:n.*146G>A
ENST00000472946.2:n.105G>A
ENST00000485333.6:c.*171G>A	ENSP00000511905.1:n.*171G>A
ENST00000488610.6:c.*229G>A	ENSP00000511906.1:n.*229G>A
ENST00000241600.10:c.340G>A MANE Select	ENSP00000241600.5:p.Asp114Asn
ENST00000241600.9:c.340G>A	ENSP00000241600.5:p.Asp114Asn
ENST00000371785.5:c.340G>A	ENSP00000360850.1:p.Asp114Asn
ENST00000453385.1:c.382G>A	ENSP00000400082.1:p.Asp128Asn
ENST00000462948.5:n.539G>A
ENST00000472852.1:n.481G>A
ENST00000472946.1:n.91G>A
ENST00000485333.5:n.487G>A
ENST00000488610.5:n.550G>A
NM_016034.4:c.340G>A	NP_057118.1:p.Asp114Asn
NR_051967.1:n.563G>A
NR_051968.1:n.618G>A
NR_051969.1:n.623G>A
NR_051970.1:n.565G>A
NR_121579.1:n.808C>T
XM_006717136.2:c.409G>A	XP_006717199.1:p.Asp137Asn
XM_006717136.3:c.409G>A	XP_006717199.1:p.Asp137Asn
NM_016034.5:c.340G>A MANE Select	NP_057118.1:p.Asp114Asn
NM_001371401.1:c.340G>A	NP_001358330.1:p.Asp114Asn
NR_051967.3:n.512G>A
NR_051968.2:n.567G>A
NR_051969.2:n.572G>A
NR_051970.2:n.514G>A